American Journal of Medical Genetics 37:320-324 (1990)
David Klein: An Appreciation ~
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John M. Opitz Department of Medical Genetics, Shodair Children’s Hospital, Helena, Montana; Departments of Pediatrics and Medicine (Medical Genetics), University of Washington, Seattle; Departments of Biology, History and Philosophy, Medicine (WAMI Program), and Veterinary Science, Montana State University, Bozeman; Departments of Medical Genetics and Pediatrics, University of Wisconsin, Madison.
characterized by a high degree of local consanguinity, which made many parts of the Swiss population a living genetics laboratory, frequently with more than one genetic disorder in the same kindred. Indeed, the “Glaser” family, with whom he began his work on Friedreich ataxia, had already been studied by Franceschetti for the independent segregation of macular degeneration. The cosmopolitan and highly cultured nature of David Klein’s personality derives from many sources. Before World War I his birthplace, Falkau, was a peaceable village in the Bukovina which had become a duchy of the Austro-Hungarian monarchy in 1849 and acquired a university in its provincial seat of Czernowitz in 1875. It was the cradle of the ancient Moldavian principality and repository of the finest examples of Rumanian art and architecture with its unique painted monastic churches dating from the 15th and 16th centuries. With its mixed Ruthenian, Rumanian, German, Polish, and Jewish population, it became a bitterly contested area at the end of the war before its final incorporation into Rumania. However, the Klein family left before then and settled in Freiburg i. Br. in 1915 when David was a 7-year-old boy, and thereafter had no further contact with Rumania. Even in this part of the former AustroHungarian empire Moses Mendelsohn had had an effect, for, according to David, the Jews of Czernowitz spoke a good German; indeed, his mother recited Schiller’s “Die In 1937 and 1938 David Klein (Fig. 1)published his Glocke” by heart; “famous poets such as Mane Sperber first two papers-both on Friedreich ataxia; in 1988 he and Celan came from this region.” The grievious emopublished his latest book-Genetih in der medizinischen tional pain inflicted on David Klein by the Second World Praxis. These dates bracket a half-century of uninter- War was mirrored in the physical pain of his father who rupted and devoted scientific work and a career that saw was made a permanent invalid during military service and contributed richly to the development of human, in the First World War. In spite of his bravery during the medical, and clinical genetics and genetic counseling, war (two bravery medals) he was later deported, towith emphasis on neuro- and ophthalmogenetics. gether with David’s mother and his whole family, to Klein’s name is an eponymous household word in the Auschwitz in 1942. David began his post-secondary studies in Freiburg in Klein-Waardenburg syndrome (McKusick No. 14882) the Bamatter-Klein-Franceschetti syndrome (geroder- 1927 where he read chemistry, physics, and mathemamia osteodysplastica, McKusick No. 23107), and mandi- tics for 2 semesters before enrolling for another 2 semesbulofacial dysostosis (known in Europe a s F’ran- ters in history, philosophy, and Jewish studies at the ceschetti-Klein-Zwahlen syndrome, McKusick No. University of Berlin. As a Jew (Nichtarier) he was not 15450). David Klein was one ofthe first in our field to do allowed to take his final medical examinations in genetic epidemiology of isolates due to geographical, Freiburg in 1933, but found the Swiss authorities and economic, social, cultural, and religious forces, and faculty of the university of Easel most generous in allowing him to take his final exams there and to attain Received for publication December 30, 1989; revision received his MD degree with a psychiatry thesis begun under April 10, 1990. Kuppers in Freiburg and accepted in Easel a t the strong Address reprint requests to J.M. Opitz, Department of Medical Genetics, Shodair Children’s Hospital, Box 5539, Helena MT recommendation of Alfred Hoche, one of the most renowned psychiatrists of th a t era. 59604. 0 1990 Wiley-Liss, Inc.
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Thereafter David apparently had only two jobs. Be- ing The Alfred Vogt Prize (1942 and 1959);the Medal for tween 1934 and 1945 he worked first under Dr. Gehry Scientific Merit from the University of Liege (1964); and then under Professor Binder a t the Cantonal Psy- the opportunity to present the Bjerrum Lecture, chiatric Clinic RheinautZiirich, where he began his ge- Copenhagen (1970); honorary membership of the netic studies; and between 1945 and 1978 a t the Univer- French and Italian Societies for Neurology; Membership in the Board of Governors of the University of Haifa; in sity of Geneva where he now is emeritus professor. The story of David’s professional life between 1945 1987 he was made laureate of the Franceschetti-Prize of and now is told in his Living History-Biography which the German Ophthalmological Society and in 1977 he I a m happy to offer to the readers of the American was made Doctor honoris causa of the University of Journal of Medical Genetics. We North-Americans fre- Lyon. However, during his long and productive professional quently forget the European roots of our specialty, what part of this Old World heritage perished under Hitler, life David has mostly honored himself with his unimand to what extent we were enriched by the many gifted peachable integrity and honorability; his dedication to emigrants who found the New World ready to become highest standards of quality in clinical and research the recipient of their personal and professional patri- work; his generous devotion to friends, collaborators, mony. In his neutral refuge i t was safe for David to and students; and above all his warm humanity and care weather the storm, to grow in wisdom and experience for his patients. It is hard to imagine our field without and to occupy, in 1955, the first Chair for Human Ge- the contributions of David Klein. netics in Switzerland and in 1970 to become the first professor of that speciality in that country. Only 4 paACKNOWLEDGMENTS pers were written during the period ofthe Holocaust, but I am deeply grateful to Ms. Vicki L. Smith and LaVelle beginning in 1946 David Klein commenced on a scholarly career which continues with unabated vigor to this Spano for expert secretarial collaboration and to the day. A bibliography of David’s writings was published State of Montana Department of Health and Environby the Journal de GCnetique humaine (17-3/4:207-222) mental Sciences for a grant under HB 430 to support the in 1969 citing 175 publications and 42 theses prepared Montana Medical Genetics Program. under his direction (including those of Goldenhar [19521, Ammann [19661, and Irene Hussels [19671).His LIST OF DAVID KLEIN’S PUBLICATIONS: bibliography since then, reaching a total of almost 300 1969-Present publications, is appended to this Appreciation; by now 56 doctoral dissertations have been prepared under his Klein D (1969): Les consultations genetiques en ophtalmologie. Ophthalmologica 158:521-540. direction. David has been visiting professor and lectured D (1969): Aspects genetiques de la sterilite chez I’homrne. Med in numerous universities throughout the world. In 1963 Klein Hyg 27:1356-1360. he was, for example, visiting professor for 2 months a t K, Ammann F (1969):Clinical variability and genetic epidemiolthe Neurology Institute of the NIH, in 1964 a t Liege and Klein ogy of the Bardet-Biedl syndrome in Switzerland. In “Progress in Ghent, in 1965 in Antwerp a t the occasion of the inauNeuro-Ophthalmology,” volume 2. Second International Congress on Neuro-Genetics and Neuro-Ophthalmology (Montreal, Sept, guration of the Institut Bunge, and in the same year in 1967). Excerpta Med Int Congr Series no 176. Cincinatti, and in Honolulu in 1966, and Sao Paul0 in Klein D, Ammann F (1969): The syndrome of Laurence-Moon-Biedl 1976; between 1955 and 1961 he was guest lecturer in and allied diseases in Switzerland. Clinical, genetic and epidemihuman genetics a t the University of Basel. ological studies. J Neurol Sci 9:479-513. One of David’s most important activities has been his Andrade C, Canijo M, Klein D, Kaelin A (1969):The genetic aspect of the familial amyloidotic polyneuropathy. Portuguese type of paralong period of distinguished service to the World Federamyloidosis. Humangenetik 7:163-175. tion of Neurology (WFN) a s Chairman and Secretary of the Research Group on Neurogenetics which worked in Klein D, Ionasesco V, Gauthier G, Simora B (1969):Considerations sur un cas presentant un syndrome de Marfan atypique avec epilepsie, closest relationship with that on neuro-ophthalmology. oligophrenie et colobome irien. Rev Oto-Neuro-Ophtalmol 41: As such David organized the combined meetings on neu413-424. rogenetics and neuro-ophthalmology in Albi (19651, Klein D, Boreux G, Tajrnirova 0,Gauthier G, Felgenhauer W-R (1969): Deux cas de syndrome de Klinefelter en mosaique (46,XY/47,XXY), Montreal (1967), Brussels (19701, Rome (1973), Nijdont I’un associe a une protanopie et l’autre a des opacites cormegen (19771, Zurich (1981), and Antwerp (1984). Beneennes unilaterales. Arch Klaus-Stift Vererb Forsch 44:55-64. cause of his outstanding service to the WFN the Re- Bamatter F, Klein D, Tabibian Y, Tajmirova 0, Boreux G (1969): search Committee and Council of Delegates of the WFN Constitution 48,XXXY chez un enfant de 7 rnois dont le pere presente des cassures chromosomiques. Arch Klaus-Stift Vererb appointed him in September 1985 a n Honorary Life Forsch 44:64-68. Member of the Research Committee. Equally important has been David’s work as member Klein D, Tajmirova 0,Laut J, McGilvray E (1969):Concomitance dans une famille d u n rnongolisme en mosaique (trisomie 21) chez le frere of the Expert Commission of the WHO, where he peret d’un syndrome triplo-X (XXX) chez la soeur. Arch Klaus-Stift formed important pioneering work as co-founder and Vererb Forsch 44:68-78. driving force behind the Club europden de conseil gCnd- Bovet-Dubois N, Pilloul P, Tajmirova 0, Klein D, Megevand A (1969): Le problerne genetique, nosologique et psychologique d’un cas de tique founded in Lyon in 1971, and as founder and editor pseudo-hermaphrodisme masculin. Arch Klaus-Stift Vererb Forsch for almost 30 years of the Journal de GCnCtique hu44:78-87. maine. Boreux G, Klein D, Dolivo G (1970): a s u l t a t s preliminaires d’une David’s modesty has prevented him from mentioning investigation sur les thalassemies en Suisse romande. Arch KlausStift Vererb Forsch 45:56-69. the many honors he has received over the years, includ-
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Klein D, Boreux G, Brocher JEW, Martin du Pan R (1970):Uber eine atypische Form von spondylo-epiphysarer Dysostose (Pseudo-Morquio). Fortschr Rijntgenstr 112:510-514. Klein D (1970): Biodinamica de la genetica humana. Tribuna Med Revision 1:3-10. Klein D (1970): Aspects genetiques de la neurofibromatose de Recklinghausen. In “Groupe d’Etudes de la Scoliose.” Lyon: 20-21.2.1970, pp 112-118. Klein D, Koenig H, Tobler R (1970):Sur une forme extensive de dysostose mandibulo-faciale (Franceschetti) accompagnee de malformations des extremites et d’autres anomalies congenitales chez une fille dont le frere ne presente qu’une forme fruste du syndrome (fistula auris congenita retrotragica). Rev Oto-Neuro-Ophtalmol 42432-440. Klein D, Ricci A, Nicoucar GR (1970): Dysostose mandibulo-faciale (syndrome de forme complete) chez une fillette agee de quinze mois. Rev Oto-Neuro-Ophtalmol 42426-432. Klein D, Koenig H (1970): Ophthalmological and genetic considerations on a case of Lowe’s syndrome. J Genet Hum 18:191-195. Klein D (1970):Transmission dominante irreguliere d’une aplasie des tibias (questionnaire genetique). J Genet Hum 18275-278. Klein D (1970): Necrologie du Dr. Jean Sutter (1910-1970). J Genet Hum 18299, 300. Todorov A, Jequier M, Klein D, Morton NE (1970): Analyse de la segregation dans la dystrophie myotonique. J Genet Hum 18: 387-406. Klein D (1970):Aspectos geneticos de diversos trastornos neurologicos asociados con oligofrenia. Rev Esp Subnormalidad, Invalidez Epilepsia 1:17-34. Klein D (1970): Pronostic genetique dans un cas de “Dystrophie musculaire spinale benign&’. (Questionnaire genetique).J Genet Hum 18:421, 422. Klein D (1971): La biodynamique de la genetique humaine. Med Hyg 29:284-289, 327-328. Klein D (1971):Genetic factors and classification of cranio-facial anomalies derived from a perturbation of the first branchial arch. In Moyers RE, Krogman WM (eds): “Cranio-Facial Growth in Man.” New York: Pergamon Press, pp 193-204. Klein D (1971):Genetic approach to the nosology of retinal disorders. In Bergsma D (ed): “Second Conference on the Clinical Delineation of Birth Defects: Part VII: Eye” Baltimore: Williams and Wilkins for the National Foundation March of Dimes BD:OAS VII(3):52-82. McGilvray E, Kajii T, Bamatter F, Klein D (1971):A balanced 13/18 translocation (46,XY,t(13q- ;18q+ ) in the father of an infant with multiple anomalies. Humangenetik 12316-322. Sorsby A, Adelstein F, Arruga A, Delthil S, Graham PA, Klein D, Litricin 0, M0llenbach CJ, Nesterov AP, Reinhards J (1971): Methods for the early detection of potentially blinding eye conditions. OMS Regional Office for Europe, Copenhagen Report of a working group. (7-11 December 1970) 24 pages. Boreux G, Klein D (1971): Les differentes formes de thalassemie en Suisse. MBd Hyg 29:1597-1599. Mutrux S, Klein D, Tajmirova 0, Boreux G (1971): Etude psychopathologique longitudinale d’un delinquant recidivite presentant le syndrome de XYY. Schweiz Arch Neurol Psychiatr 190:192-198. Tajmirova 0, Klein D (1971): Frequence et distribution des satellites dans un groupe de personnes atteintes d’anomalies chromosomiques et comparison avec un groupe d’individus normaux. J Genet Hum 19:l-16. Klein D (1971):Aspects genetiques de la debilite mentale. (30e &union annuelle du Groupe ONO, Lavigny, 24-25 October 1970). Rev OtoNeuro-Ophtalmol (Paris) 43:349-355. Klein D (1971):Biland’un congres (43Congres international de genetique humaine, Paris, 1971) J Genet Hum 19:189-202. Klein D (1971): Enqu6te genetique et epidemiologique sur l’epilepsie myoclonique en Valais (Suisse).(4th International Congress of Human Genetics, Paris, 6-11 September 1971). Excerpta Med Int Congr Series 359:lOl. Klein D (1971):Pied bot et choree de Huntington: Deux exemples bien differents de conseil genetique. (Questionnaire genetique).J Genet Hum 19:185-187. Klein D (1971): Risque de reapparition d u n cheilo-palatoschisis ou
d‘autres anomalies congenitales (luxation congenitale de la hanche, syndactylie cutanee) dans une famille. (Questionnairegenetique).J Genet Hum 19267-269. Klein D (1971):Aspect genetique des deviations sexuelles (Etude d’un couple de jumeaux monozygotes sourds-muets,discordants au point de vue psycho-sexuel).J Genet Hum 19:317-336. Klein D (1971):Aspect genetique des deviations sexuelles. (Conference ler Congres international de Sexologie, San Remo, 5-8 April 1972). Sessuologia (Roma) 13:77-82. Klein D (1973):Deux jumeaux monozygotes sourds-muets discordants au point de vue psycho-sexuel. Arch Genet 46:63. Klein D, Zatz M, Penhy-Serrano C, Frota-Pessoa 0 (1971):A malignant form of neurogenic muscular atrophy in adults, with dominant inheritance. J Genet Hum 19:337-354. Klein D (1972): La consultation genetique. Bull Acad Suisse Sci Med 28:250-265. Klein D (1972):L‘heredite de la maladie de Norrie (pseudo-gliome de la retine lie au sexe) et l’importance du conseil genetique aux parents des atteints (Questionnaire genetique). J Genet Hum 20:85-89. Klein D, Boreux G, Wyss M (1972):Mise en garde “in extremis” de deux familles atteintes d’hemoglobinopathies. (Questionnaire genetique). J Genet Hum 20:169-176. Klein D (1972):Necrologie Professeur LS Penrose, 1898-1972. J Genet Hum 20:177, 178. Klein D, Rubinstein J H , Ammann F (1972): Caracteristiques neuroophtalmologiques du syndrome des “pouces larges” de RubinsteinTaybi. A propos d u n cas meconnu. Rev Oto-Neuro-Ophtalmol 44373-382. Klein D (1972):Les manipulation genetiques. Etat actuel des connaissances et perspectives d’avenir. In Btesh S (ed):‘‘%cents Progres de la Biologie et de la Medecine et leur Portee Sociale et Ethique.” (7eme Table ronde du CIOMS, Maison de I’UNESCO, Paris, 4-6 October 1972).The same article appeared in Med Hyg 31:221-225, 1973 and Saint-Luc Med (Bruxelles) 1:l-9, 1974. Klein D (1972): Necrologie. Professeur Alex E. Krill, 1928-1972. J Genet Hum 20:335, 336. Anton-Lamprecht I, Goos M, Klein D (1972): Zur Ultrastruktur der Haut beim Klein-Waardenburg-Syndrom. Hautarzt 23:462-473. Klein D (1973): Genetic manipulations. Impact Sci SOC23:21-27. Klein D (1973): Les manipulations genetiques. Impact Sci SOC 23:23-30. (French translation of nr.225). Klein D (1973): Les problemes poses par la femme enceinte &geede 40 ans. J Genet Hum 20:329-333. Klein D, Rosatti P, Mach RS, Ferrier PE, Rauch S (1973): Le syndrome de Morgagni-Morel, une entite clinique et genetique independante, demontree par une observation familiale s’etendant sur quatre generations. Schweiz Arch Neurol Psychiatr 112:239-250. Morton NE, Klein D, Hussels IE, Dodinval P, Todorov A, Lew R, Yee S (1973): Genetic structure in Switzerland. Am J Hum Genet 25:347-361. Klein D, Rabeau-Talleyrand M-T, Boreux G (1973): Etude des types hemoglobiniques parmi 100 ressortissants de Hai’ti sejournant en Suisse ou dans les pays voisins. Arch Genet 46:15-21. Klein D (1973):Conseil genetique pour un malade presentant l’association complexe d‘un deficit en G-BPD, d u n syndrome de GronbladStrandberg (pseudoxanthome Blastique) et d’une epilepsie. (Questionnaire genetique). J Genet Hum 21:57-62. Klein D (1973): Necrologie. Professeur Ernst Hanhart, 1891-1973. J Genet Hum 21:139-141. Klein D (19731: De l’inter6t d’une lesion maculaire d’origine indeterminee chez le pere pour le pronostic genetique de son fils atteint d u n e degenerescence maculaire infantile de Stargardt (Questionnaire genetique). J Genet Hum 21:229, 230. Klein D (1973): Actualites: 4eme Congres international de neuro-genetique et neuro-ophtalmologie (Rome, 25-28 Septembre 1973).J Genet Hum 21:231-234. Franceschetti A, Fransois J, Babel J, De Rouck A, Dieterle P, Forni S, Klein D, Ricci A, Verriest G (1963): “Les Heredo-Degenerescences Chorio-&tiniennes.” Paris: Masson, Editeurs, 2 volumes. Boreux G, Rudolf H, Miescher PA, Klein D (1974):Une thrombopathie hereditaire rare: L’anomalie de May-Hegglin. Med Hyg 321614, 1615.
Economium Pescia G, Wildi E, Klein D (1974):Deux familles d u n isolat valaisan atteintes dencephalopathie epileptogene infantile. Rev Oto-NeuroOphtalmol (Paris) 46:483-489. Boreux G, Klein D (1974): Les differentes formes de thalassemie en Suisse. Doc Sci Guigoz 96:ll-21. Klein D (1974): The Laurence-Moon-Bardet-Biedl syndrome in Switzerland. In Ramot B (ed): “Genetic Polymorphisms and Diseases in Man.” (Symposium, Tel Aviv 18-22 March 1973). London: Academic Press, pp 239. Tuchmann-DuplessisH, Bertelli A, Degenhardt KH, Hess R, Hornstra HW, Jacob J, Klein D, Kramer M, Leonard BI, Lindgren P, Lorke D, de Meyer R, Palmer AK (1974): Evaluation of drugs and other chemical agents for teratogenicity. Bull Schweiz Akad Med Wiss 3O:l-62. Klein D, Rabinowicz Th (1974): Une forme particuliere d’epilepsie myoclonique observee dans cinq fratries d’une famille valaisanne. (Deux cas verifies anatomiquement). Schweiz Arch Neurol Psychiatr 115:309. Klein D (1974): Genetic consultations in neuro-ophthalmology. Acta Genet Med Gemellol (Roma) 23:115-119. Klein D (1975):Les anomalies chromosomiques en clinique. Rev Suisse Med Praxis 64:148-160, 175-191. Mounoud RL, Klein D, Weber F (1975):A propos d’un cas de syndrome de Goldenhar: Intoxication aieue a la vitamine A chez la mere pendant la grossesse. Med H G 33289-291. Idem: J Genet Hum 23:135-154. Klein D, Mendez H (1975): Deux cas remarquable de dystrophie myotonique, le premier a debut thomsenien, le second avec des troubles de la motilite pharyngo-oesophagienne entrainant des complications broncho-pulmonaires. J Genet Hum 23:29-42. Klein D (1975): Necrologie: Professeur E. Frauchiger, 1903-1975. J Genet Hum 23:77, 78. Klein D (1975): Die chromosomalen Syndrome (Eine Uebersicht). Padiatr Padol [Suppll 4:l-31. Klein D, Tobler R, Koenig H (1975): Dysmorphie oculo-faciale avec peromelie et nanisme: Une nouvelle variante de dysplasie generalisee. Med Hyg 33:1481-1483. Pescia G, Ferrier PE, Wyss-Hutin D, Klein D (1975): 45,X Turner’s syndrome in monozygotic twin sisters. J Med Genet 12:390-396. Boreux G, Rudolf H, Miescher PA, Klein D (1975):Une thrombopathie hereditaire rare: L’anomalie de May-Hegglin. Guigoz, Service Doc Sci 985-6. Klein D (1975): A large family with myoclonic epilepsy in a Swiss isolate. (Am SOC Hum Genet, Baltimore, 9-11 October 1975).Am J Hum Genet 27:56A. Klein D (1975): Necrologie: Professeur Maurice Lamy, 1895-1975. J Genet Hum 23:353, 354. Crippa L, Klein D, Linder A (1976):Etude cytogenetique et statistique d’un groupe de patients traites a la butazolidine (phenylbutazone). J Genet Hum 24:l-13. Franceschetti ATh, Klein D, Dieterle P (1976): Jumelles monozygotiques atteintes de deuteranomalie concordante. J Genet Hum 24:281-290. Klein D (1976):Actualites: 5eme Congr&sinternational de Genetique humaine (Mexico, 10-15 October 1976).J Genet Hum 24:355-361. Klein D (1977):Quelques aspects ethiques en genetique humaine. Med Hyg 35:672, 673. Klein D, Bovard A, Berney J , Ricci A, Brocher JEW (1977): Aspects neuro-ophtalmologiques et genetiques d u n e famille atteinte de dysostose cranio-faciale de Crouzon. J Genet Hum 25:l-24; Rev Oto-Neuro-Ophtalmol 49:373-378. Klein D, Wyss D (1977):Retrospective and follow-up study of approximately 1000 genetic consultations. J Genet Hum 25:47-57. Klein D (1977): Les anomalies chromosomiques en clinique. Rev Int Pediatr 71:5-55. Dubosson JD, Klein D, Pettavel J, Rey ChD (1977):Syndrome du cancer familial a travers 4 generations. Schweiz Med Wochenschr 107:875-881. Klein D, Mounoud RL, Bettschart W, Cabrol C (1976119771: Wsultats preliminaires d u n e enquete clinique et cytogenetique portant sur 82 oligophrenes d u n e institution medico-educative. Arch Genet 49150:18-28.
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Klein D (1977):Les anomalies chromosomiques en clinique. I. Anomalies des chromosomes autosomiques. 11. Anomalies des chromosomes sexuels. Rev Int Pediatr 71:5-55. Klein D, Tobler R, Konig H (1977): Syndrome malformatif complexe associant une hypomelie, une hypotrichose, un hemangiome facial et des troubles oculaires. Med Hyg 35:3261-3266. Franceschetti A, Klein D, Fiore C, Korol S (1978):Albinisme oculaire et degenerescence tapeto-retinienne chez une fille de 10 ans. Klin Monatsbl Augenheilkd 172:484-487. Klein D, Crippa L, Marcoz JP, Bourquin D (1978): Les trisomies 18 a survie prolongee (au-dela de 10 ans) sont elks toutes des mosai’ques? J Genet Hum 26:145-160. Marcoz JP, Klein D (1978):Dystrophie myotonique a symptomatologie variable et a pronostic clinique favorable dans une grande famille. Wv Med Suisse Romande 98:431-441. Klein D, Tobler R, Konig H (1978): Hypomelia-hypotrichosis-facial hemangioma syndrome accociated with congenital glaucoma and other eye anomalies. Deutman AF, Cruysberg JRM (eds): “Doc Ophthalmol Proc Ser Neurogenet and Neuro-ophthalmol” (5th Internat Congr Nijmegen, 19771,Volume 17. The Hague: Dr. W. Junk Publishers, pp 383-391. Klein D, Rabinowicz Th (1978):Clinical and genetic aspects of certain neuro-ophthalmological diseases in Swiss isolates (Bardet-Biedl syndrome, myotonic dystroph myoclonic epilepsy). (Population Structure a. Genetic Disease, land Islands, 13-16 August 1978): London: Academic Press, pp 367-382. Klein D (1980):Vingt ans d’observation d’une famille atteinte de maladie de Behr (atrophie optique infantile compliquee heredo-familiale (Communication faite a la Societe d’Oto-neuro-ophtalmologie de Strasbourg-Nancy; reunion du 15 December 1979, Nancy). Rev Oto-Neuro-Ophtalmol (Paris) 52179-185. Klein D, Bourquin M, Korol S (1980): Heredoataxia, degenerescence tapeto-retinienne et signes dysmorphiques chez un garcon de 16 ans. Klin Monatsbl Augenheilkd 176:694-698. Klein D (1979): Genetics of tapetoretinal degenerations and allied disorders. In Shimizu K, Oosterhuis JA (eds): “XXIII Concilium Ophthalmologicum, Pars I (Kyoto, 1978).” Amsterdam: Excerpta Medica, pp 390-399. Klein D (1980): Ecentes experiences de conseil genetique en ophtalmologie. Med Hyg (Geneve) 38:3217-3220. Klein D (1980): Le conseil genetique au service des familles. Schweiz Rundsch Med Prax 69:1710-1721. Klein D (1980):Editorial: “Problemes actuels de genetique medicale.” Praxis, Bern 69:1681, 1682. Klein D (1980): In memoriam Dr. PJ Waardenburg, 1886-1979. Acta Genet Med Gemellol (Roma) 29:167, 168. Klein D, Dodinval P (1979):“La Genetique Humaine au Service de la Medecine.” Basel: Editiones “Roche” [et Geneve: Medecine et Hygiene], pp 422, 139 figures et 74 tableaux. Klein D, Dodinval P (1981): “La Genetica Humana a1 Servicio de la Medicina.” Basel: Ed. Roche, 422p. (Traduction espagnole). Huber A, Klein D (eds)(1981):“Neurogeneticsand Neuro-Ophthalmology” (Developments in Neurology, Vol. 5). Amsterdam: Elsevier. (Proceedings of the 6th International Congress of Neurogenetics a. Neuro-Ophthalmology, Zurich, 9-12 June, 1981) pp 432. Klein D (1981):The historical background of the Klein-Waardenburg syndrome. In Huber A, Klein D (eds): “Neurogenetics and NeuroOphthalmology.” Amsterdam: Elsevier, pp 369-377. Klein D, Marcoz JP, Mounoud RL, Bettschart W (1982):Usultat final dune investigation clinique, genetique et cytogenetique de 182 oligophrenas d u n e institution medico-educative. Schweiz Rundsch Med F’rax 71:1150-1157, 1209-1221. Babel J , Cabernard E, Klein D, Korol S, Krauchi H, Schafroth P (1982): Pseudo-inflammatory chorioretinal degeneration of the posterior pole. Study of a family of four affected generations, associated with tapetoretinal amaurosis (Leber) in the fifth generation. Graefes Arch Klin Exp Ophthalmol 219:236-251. Klein D (1983):Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (Type 111).Am J Med Genet 14231-239. Goodman RM, Lewithal I, Solomon A, Klein D (1982): Upper limb involvement in the Klein-Waardenburg syndrome. Am J Med Genet 11:425-433.
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Goodman RM, Levithal I, Solomon I, Klein D (1981): A survey of the Klein-Waardenburg syndrome in Israel with emphasis on upper extremity involvement: Evidence for further genetic heterogeneity-type 111. In Huber A, Klein D (eds): “Neurogenetics and Neuro-Ophthalmology.” Amsterdam: Elsevier 393-406. Klein D (1981):Sindromi degli archi branchiali. Prospettive Pediatria 13:29-35 (Congr. internat. sur l’identification des syndromes genetique en pediatrie, Florence 14-17 October 1982).
Klein D (1984):Historischer Riickblick auf die genetische Forschung in der Augenheilkunde. In Hammerstein W, Lisch W (eds):“Ophthalmologische Genetik, Diagnosis, Ravention, Rehabilitation.” Stuttgart: F. Enke, pp 7-20. Jaeger W, Klein D, Goebcl H, Krastel II (1984): Hereditare Erkrankungen der Netzhautperipherie. In Hammerstein W, Lisch W (eds):“OphthalmologischeGenetik, Diagnise, Pravention, Rehabilitation.” Stuttgart: F. Enke, p p 254-283. i
Klein D (1983): Syndromes oculo-auditifs d’interet genetique. Rivista siciliana di Medicina prenatale neonatale pediatrica e genetica. (Atti del I Congress0 su “La genetica della patologia congenita ed acquisita”, Palermo 23-24 September 1983).
Klein D, Giovannucci Uzielli ML, Di Lo110 S, Engel W, Rehder H (1985): Rare oculo-rhino-auditivevariants of the branchial arch syndrome. Ophthalmol Paediatr Genet 6:67-72.
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Babel J, Klein L), Roth A (1989): Leber’s congenital amaurosis associated with high hyperopia in four sisters. Ophthalmol Paediatr Genet 10:55-61 Roth A, Klein D, Paccolat F, Hermes D, Pelizzone M, Mandel JL, Feil R (1989):Le devenir des familles Protan and Deutan de Franceschetti ct Klein 11949 et 1956), une generation apres. Genealogie, vision coloree et A D N ghumique: (Present6 a la Societe frayaise d‘Ophtalmologie, Paris 8-11 May 1988). Publie in: Ophtalmologie (Paris) 3:275-278. Klcin D (1989): Die Entwicklung drr genetischen Forschung in der Augenheilkunde unter besonderer Beriicksichtigung der Schweiz. (82. Jahreskongress der Schweiz. ophthalmol. Gesellschaft. St-Gallen, 13-16 Septembre, 1989) (in press).
David Klein: An Appreciation ~
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John M. Opitz Department of Medical Genetics, Shodair Children’s Hospital, Helena, Montana; Departments of Pediatrics and Medicine (Medical Genetics), University of Washington, Seattle; Departments of Biology, History and Philosophy, Medicine (WAMI Program), and Veterinary Science, Montana State University, Bozeman; Departments of Medical Genetics and Pediatrics, University of Wisconsin, Madison.
characterized by a high degree of local consanguinity, which made many parts of the Swiss population a living genetics laboratory, frequently with more than one genetic disorder in the same kindred. Indeed, the “Glaser” family, with whom he began his work on Friedreich ataxia, had already been studied by Franceschetti for the independent segregation of macular degeneration. The cosmopolitan and highly cultured nature of David Klein’s personality derives from many sources. Before World War I his birthplace, Falkau, was a peaceable village in the Bukovina which had become a duchy of the Austro-Hungarian monarchy in 1849 and acquired a university in its provincial seat of Czernowitz in 1875. It was the cradle of the ancient Moldavian principality and repository of the finest examples of Rumanian art and architecture with its unique painted monastic churches dating from the 15th and 16th centuries. With its mixed Ruthenian, Rumanian, German, Polish, and Jewish population, it became a bitterly contested area at the end of the war before its final incorporation into Rumania. However, the Klein family left before then and settled in Freiburg i. Br. in 1915 when David was a 7-year-old boy, and thereafter had no further contact with Rumania. Even in this part of the former AustroHungarian empire Moses Mendelsohn had had an effect, for, according to David, the Jews of Czernowitz spoke a good German; indeed, his mother recited Schiller’s “Die In 1937 and 1938 David Klein (Fig. 1)published his Glocke” by heart; “famous poets such as Mane Sperber first two papers-both on Friedreich ataxia; in 1988 he and Celan came from this region.” The grievious emopublished his latest book-Genetih in der medizinischen tional pain inflicted on David Klein by the Second World Praxis. These dates bracket a half-century of uninter- War was mirrored in the physical pain of his father who rupted and devoted scientific work and a career that saw was made a permanent invalid during military service and contributed richly to the development of human, in the First World War. In spite of his bravery during the medical, and clinical genetics and genetic counseling, war (two bravery medals) he was later deported, towith emphasis on neuro- and ophthalmogenetics. gether with David’s mother and his whole family, to Klein’s name is an eponymous household word in the Auschwitz in 1942. David began his post-secondary studies in Freiburg in Klein-Waardenburg syndrome (McKusick No. 14882) the Bamatter-Klein-Franceschetti syndrome (geroder- 1927 where he read chemistry, physics, and mathemamia osteodysplastica, McKusick No. 23107), and mandi- tics for 2 semesters before enrolling for another 2 semesbulofacial dysostosis (known in Europe a s F’ran- ters in history, philosophy, and Jewish studies at the ceschetti-Klein-Zwahlen syndrome, McKusick No. University of Berlin. As a Jew (Nichtarier) he was not 15450). David Klein was one ofthe first in our field to do allowed to take his final medical examinations in genetic epidemiology of isolates due to geographical, Freiburg in 1933, but found the Swiss authorities and economic, social, cultural, and religious forces, and faculty of the university of Easel most generous in allowing him to take his final exams there and to attain Received for publication December 30, 1989; revision received his MD degree with a psychiatry thesis begun under April 10, 1990. Kuppers in Freiburg and accepted in Easel a t the strong Address reprint requests to J.M. Opitz, Department of Medical Genetics, Shodair Children’s Hospital, Box 5539, Helena MT recommendation of Alfred Hoche, one of the most renowned psychiatrists of th a t era. 59604. 0 1990 Wiley-Liss, Inc.
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Thereafter David apparently had only two jobs. Be- ing The Alfred Vogt Prize (1942 and 1959);the Medal for tween 1934 and 1945 he worked first under Dr. Gehry Scientific Merit from the University of Liege (1964); and then under Professor Binder a t the Cantonal Psy- the opportunity to present the Bjerrum Lecture, chiatric Clinic RheinautZiirich, where he began his ge- Copenhagen (1970); honorary membership of the netic studies; and between 1945 and 1978 a t the Univer- French and Italian Societies for Neurology; Membership in the Board of Governors of the University of Haifa; in sity of Geneva where he now is emeritus professor. The story of David’s professional life between 1945 1987 he was made laureate of the Franceschetti-Prize of and now is told in his Living History-Biography which the German Ophthalmological Society and in 1977 he I a m happy to offer to the readers of the American was made Doctor honoris causa of the University of Journal of Medical Genetics. We North-Americans fre- Lyon. However, during his long and productive professional quently forget the European roots of our specialty, what part of this Old World heritage perished under Hitler, life David has mostly honored himself with his unimand to what extent we were enriched by the many gifted peachable integrity and honorability; his dedication to emigrants who found the New World ready to become highest standards of quality in clinical and research the recipient of their personal and professional patri- work; his generous devotion to friends, collaborators, mony. In his neutral refuge i t was safe for David to and students; and above all his warm humanity and care weather the storm, to grow in wisdom and experience for his patients. It is hard to imagine our field without and to occupy, in 1955, the first Chair for Human Ge- the contributions of David Klein. netics in Switzerland and in 1970 to become the first professor of that speciality in that country. Only 4 paACKNOWLEDGMENTS pers were written during the period ofthe Holocaust, but I am deeply grateful to Ms. Vicki L. Smith and LaVelle beginning in 1946 David Klein commenced on a scholarly career which continues with unabated vigor to this Spano for expert secretarial collaboration and to the day. A bibliography of David’s writings was published State of Montana Department of Health and Environby the Journal de GCnetique humaine (17-3/4:207-222) mental Sciences for a grant under HB 430 to support the in 1969 citing 175 publications and 42 theses prepared Montana Medical Genetics Program. under his direction (including those of Goldenhar [19521, Ammann [19661, and Irene Hussels [19671).His LIST OF DAVID KLEIN’S PUBLICATIONS: bibliography since then, reaching a total of almost 300 1969-Present publications, is appended to this Appreciation; by now 56 doctoral dissertations have been prepared under his Klein D (1969): Les consultations genetiques en ophtalmologie. Ophthalmologica 158:521-540. direction. David has been visiting professor and lectured D (1969): Aspects genetiques de la sterilite chez I’homrne. Med in numerous universities throughout the world. In 1963 Klein Hyg 27:1356-1360. he was, for example, visiting professor for 2 months a t K, Ammann F (1969):Clinical variability and genetic epidemiolthe Neurology Institute of the NIH, in 1964 a t Liege and Klein ogy of the Bardet-Biedl syndrome in Switzerland. In “Progress in Ghent, in 1965 in Antwerp a t the occasion of the inauNeuro-Ophthalmology,” volume 2. Second International Congress on Neuro-Genetics and Neuro-Ophthalmology (Montreal, Sept, guration of the Institut Bunge, and in the same year in 1967). Excerpta Med Int Congr Series no 176. Cincinatti, and in Honolulu in 1966, and Sao Paul0 in Klein D, Ammann F (1969): The syndrome of Laurence-Moon-Biedl 1976; between 1955 and 1961 he was guest lecturer in and allied diseases in Switzerland. Clinical, genetic and epidemihuman genetics a t the University of Basel. ological studies. J Neurol Sci 9:479-513. One of David’s most important activities has been his Andrade C, Canijo M, Klein D, Kaelin A (1969):The genetic aspect of the familial amyloidotic polyneuropathy. Portuguese type of paralong period of distinguished service to the World Federamyloidosis. Humangenetik 7:163-175. tion of Neurology (WFN) a s Chairman and Secretary of the Research Group on Neurogenetics which worked in Klein D, Ionasesco V, Gauthier G, Simora B (1969):Considerations sur un cas presentant un syndrome de Marfan atypique avec epilepsie, closest relationship with that on neuro-ophthalmology. oligophrenie et colobome irien. Rev Oto-Neuro-Ophtalmol 41: As such David organized the combined meetings on neu413-424. rogenetics and neuro-ophthalmology in Albi (19651, Klein D, Boreux G, Tajrnirova 0,Gauthier G, Felgenhauer W-R (1969): Deux cas de syndrome de Klinefelter en mosaique (46,XY/47,XXY), Montreal (1967), Brussels (19701, Rome (1973), Nijdont I’un associe a une protanopie et l’autre a des opacites cormegen (19771, Zurich (1981), and Antwerp (1984). Beneennes unilaterales. Arch Klaus-Stift Vererb Forsch 44:55-64. cause of his outstanding service to the WFN the Re- Bamatter F, Klein D, Tabibian Y, Tajmirova 0, Boreux G (1969): search Committee and Council of Delegates of the WFN Constitution 48,XXXY chez un enfant de 7 rnois dont le pere presente des cassures chromosomiques. Arch Klaus-Stift Vererb appointed him in September 1985 a n Honorary Life Forsch 44:64-68. Member of the Research Committee. Equally important has been David’s work as member Klein D, Tajmirova 0,Laut J, McGilvray E (1969):Concomitance dans une famille d u n rnongolisme en mosaique (trisomie 21) chez le frere of the Expert Commission of the WHO, where he peret d’un syndrome triplo-X (XXX) chez la soeur. Arch Klaus-Stift formed important pioneering work as co-founder and Vererb Forsch 44:68-78. driving force behind the Club europden de conseil gCnd- Bovet-Dubois N, Pilloul P, Tajmirova 0, Klein D, Megevand A (1969): Le problerne genetique, nosologique et psychologique d’un cas de tique founded in Lyon in 1971, and as founder and editor pseudo-hermaphrodisme masculin. Arch Klaus-Stift Vererb Forsch for almost 30 years of the Journal de GCnCtique hu44:78-87. maine. Boreux G, Klein D, Dolivo G (1970): a s u l t a t s preliminaires d’une David’s modesty has prevented him from mentioning investigation sur les thalassemies en Suisse romande. Arch KlausStift Vererb Forsch 45:56-69. the many honors he has received over the years, includ-
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Klein D, Boreux G, Brocher JEW, Martin du Pan R (1970):Uber eine atypische Form von spondylo-epiphysarer Dysostose (Pseudo-Morquio). Fortschr Rijntgenstr 112:510-514. Klein D (1970): Biodinamica de la genetica humana. Tribuna Med Revision 1:3-10. Klein D (1970): Aspects genetiques de la neurofibromatose de Recklinghausen. In “Groupe d’Etudes de la Scoliose.” Lyon: 20-21.2.1970, pp 112-118. Klein D, Koenig H, Tobler R (1970):Sur une forme extensive de dysostose mandibulo-faciale (Franceschetti) accompagnee de malformations des extremites et d’autres anomalies congenitales chez une fille dont le frere ne presente qu’une forme fruste du syndrome (fistula auris congenita retrotragica). Rev Oto-Neuro-Ophtalmol 42432-440. Klein D, Ricci A, Nicoucar GR (1970): Dysostose mandibulo-faciale (syndrome de forme complete) chez une fillette agee de quinze mois. Rev Oto-Neuro-Ophtalmol 42426-432. Klein D, Koenig H (1970): Ophthalmological and genetic considerations on a case of Lowe’s syndrome. J Genet Hum 18:191-195. Klein D (1970):Transmission dominante irreguliere d’une aplasie des tibias (questionnaire genetique). J Genet Hum 18275-278. Klein D (1970): Necrologie du Dr. Jean Sutter (1910-1970). J Genet Hum 18299, 300. Todorov A, Jequier M, Klein D, Morton NE (1970): Analyse de la segregation dans la dystrophie myotonique. J Genet Hum 18: 387-406. Klein D (1970):Aspectos geneticos de diversos trastornos neurologicos asociados con oligofrenia. Rev Esp Subnormalidad, Invalidez Epilepsia 1:17-34. Klein D (1970): Pronostic genetique dans un cas de “Dystrophie musculaire spinale benign&’. (Questionnaire genetique).J Genet Hum 18:421, 422. Klein D (1971): La biodynamique de la genetique humaine. Med Hyg 29:284-289, 327-328. Klein D (1971):Genetic factors and classification of cranio-facial anomalies derived from a perturbation of the first branchial arch. In Moyers RE, Krogman WM (eds): “Cranio-Facial Growth in Man.” New York: Pergamon Press, pp 193-204. Klein D (1971):Genetic approach to the nosology of retinal disorders. In Bergsma D (ed): “Second Conference on the Clinical Delineation of Birth Defects: Part VII: Eye” Baltimore: Williams and Wilkins for the National Foundation March of Dimes BD:OAS VII(3):52-82. McGilvray E, Kajii T, Bamatter F, Klein D (1971):A balanced 13/18 translocation (46,XY,t(13q- ;18q+ ) in the father of an infant with multiple anomalies. Humangenetik 12316-322. Sorsby A, Adelstein F, Arruga A, Delthil S, Graham PA, Klein D, Litricin 0, M0llenbach CJ, Nesterov AP, Reinhards J (1971): Methods for the early detection of potentially blinding eye conditions. OMS Regional Office for Europe, Copenhagen Report of a working group. (7-11 December 1970) 24 pages. Boreux G, Klein D (1971): Les differentes formes de thalassemie en Suisse. MBd Hyg 29:1597-1599. Mutrux S, Klein D, Tajmirova 0, Boreux G (1971): Etude psychopathologique longitudinale d’un delinquant recidivite presentant le syndrome de XYY. Schweiz Arch Neurol Psychiatr 190:192-198. Tajmirova 0, Klein D (1971): Frequence et distribution des satellites dans un groupe de personnes atteintes d’anomalies chromosomiques et comparison avec un groupe d’individus normaux. J Genet Hum 19:l-16. Klein D (1971):Aspects genetiques de la debilite mentale. (30e &union annuelle du Groupe ONO, Lavigny, 24-25 October 1970). Rev OtoNeuro-Ophtalmol (Paris) 43:349-355. Klein D (1971):Biland’un congres (43Congres international de genetique humaine, Paris, 1971) J Genet Hum 19:189-202. Klein D (1971): Enqu6te genetique et epidemiologique sur l’epilepsie myoclonique en Valais (Suisse).(4th International Congress of Human Genetics, Paris, 6-11 September 1971). Excerpta Med Int Congr Series 359:lOl. Klein D (1971):Pied bot et choree de Huntington: Deux exemples bien differents de conseil genetique. (Questionnaire genetique).J Genet Hum 19:185-187. Klein D (1971): Risque de reapparition d u n cheilo-palatoschisis ou
d‘autres anomalies congenitales (luxation congenitale de la hanche, syndactylie cutanee) dans une famille. (Questionnairegenetique).J Genet Hum 19267-269. Klein D (1971):Aspect genetique des deviations sexuelles (Etude d’un couple de jumeaux monozygotes sourds-muets,discordants au point de vue psycho-sexuel).J Genet Hum 19:317-336. Klein D (1971):Aspect genetique des deviations sexuelles. (Conference ler Congres international de Sexologie, San Remo, 5-8 April 1972). Sessuologia (Roma) 13:77-82. Klein D (1973):Deux jumeaux monozygotes sourds-muets discordants au point de vue psycho-sexuel. Arch Genet 46:63. Klein D, Zatz M, Penhy-Serrano C, Frota-Pessoa 0 (1971):A malignant form of neurogenic muscular atrophy in adults, with dominant inheritance. J Genet Hum 19:337-354. Klein D (1972): La consultation genetique. Bull Acad Suisse Sci Med 28:250-265. Klein D (1972):L‘heredite de la maladie de Norrie (pseudo-gliome de la retine lie au sexe) et l’importance du conseil genetique aux parents des atteints (Questionnaire genetique). J Genet Hum 20:85-89. Klein D, Boreux G, Wyss M (1972):Mise en garde “in extremis” de deux familles atteintes d’hemoglobinopathies. (Questionnaire genetique). J Genet Hum 20:169-176. Klein D (1972):Necrologie Professeur LS Penrose, 1898-1972. J Genet Hum 20:177, 178. Klein D, Rubinstein J H , Ammann F (1972): Caracteristiques neuroophtalmologiques du syndrome des “pouces larges” de RubinsteinTaybi. A propos d u n cas meconnu. Rev Oto-Neuro-Ophtalmol 44373-382. Klein D (1972):Les manipulation genetiques. Etat actuel des connaissances et perspectives d’avenir. In Btesh S (ed):‘‘%cents Progres de la Biologie et de la Medecine et leur Portee Sociale et Ethique.” (7eme Table ronde du CIOMS, Maison de I’UNESCO, Paris, 4-6 October 1972).The same article appeared in Med Hyg 31:221-225, 1973 and Saint-Luc Med (Bruxelles) 1:l-9, 1974. Klein D (1972): Necrologie. Professeur Alex E. Krill, 1928-1972. J Genet Hum 20:335, 336. Anton-Lamprecht I, Goos M, Klein D (1972): Zur Ultrastruktur der Haut beim Klein-Waardenburg-Syndrom. Hautarzt 23:462-473. Klein D (1973): Genetic manipulations. Impact Sci SOC23:21-27. Klein D (1973): Les manipulations genetiques. Impact Sci SOC 23:23-30. (French translation of nr.225). Klein D (1973): Les problemes poses par la femme enceinte &geede 40 ans. J Genet Hum 20:329-333. Klein D, Rosatti P, Mach RS, Ferrier PE, Rauch S (1973): Le syndrome de Morgagni-Morel, une entite clinique et genetique independante, demontree par une observation familiale s’etendant sur quatre generations. Schweiz Arch Neurol Psychiatr 112:239-250. Morton NE, Klein D, Hussels IE, Dodinval P, Todorov A, Lew R, Yee S (1973): Genetic structure in Switzerland. Am J Hum Genet 25:347-361. Klein D, Rabeau-Talleyrand M-T, Boreux G (1973): Etude des types hemoglobiniques parmi 100 ressortissants de Hai’ti sejournant en Suisse ou dans les pays voisins. Arch Genet 46:15-21. Klein D (1973):Conseil genetique pour un malade presentant l’association complexe d‘un deficit en G-BPD, d u n syndrome de GronbladStrandberg (pseudoxanthome Blastique) et d’une epilepsie. (Questionnaire genetique). J Genet Hum 21:57-62. Klein D (1973): Necrologie. Professeur Ernst Hanhart, 1891-1973. J Genet Hum 21:139-141. Klein D (19731: De l’inter6t d’une lesion maculaire d’origine indeterminee chez le pere pour le pronostic genetique de son fils atteint d u n e degenerescence maculaire infantile de Stargardt (Questionnaire genetique). J Genet Hum 21:229, 230. Klein D (1973): Actualites: 4eme Congres international de neuro-genetique et neuro-ophtalmologie (Rome, 25-28 Septembre 1973).J Genet Hum 21:231-234. Franceschetti A, Fransois J, Babel J, De Rouck A, Dieterle P, Forni S, Klein D, Ricci A, Verriest G (1963): “Les Heredo-Degenerescences Chorio-&tiniennes.” Paris: Masson, Editeurs, 2 volumes. Boreux G, Rudolf H, Miescher PA, Klein D (1974):Une thrombopathie hereditaire rare: L’anomalie de May-Hegglin. Med Hyg 321614, 1615.
Economium Pescia G, Wildi E, Klein D (1974):Deux familles d u n isolat valaisan atteintes dencephalopathie epileptogene infantile. Rev Oto-NeuroOphtalmol (Paris) 46:483-489. Boreux G, Klein D (1974): Les differentes formes de thalassemie en Suisse. Doc Sci Guigoz 96:ll-21. Klein D (1974): The Laurence-Moon-Bardet-Biedl syndrome in Switzerland. In Ramot B (ed): “Genetic Polymorphisms and Diseases in Man.” (Symposium, Tel Aviv 18-22 March 1973). London: Academic Press, pp 239. Tuchmann-DuplessisH, Bertelli A, Degenhardt KH, Hess R, Hornstra HW, Jacob J, Klein D, Kramer M, Leonard BI, Lindgren P, Lorke D, de Meyer R, Palmer AK (1974): Evaluation of drugs and other chemical agents for teratogenicity. Bull Schweiz Akad Med Wiss 3O:l-62. Klein D, Rabinowicz Th (1974): Une forme particuliere d’epilepsie myoclonique observee dans cinq fratries d’une famille valaisanne. (Deux cas verifies anatomiquement). Schweiz Arch Neurol Psychiatr 115:309. Klein D (1974): Genetic consultations in neuro-ophthalmology. Acta Genet Med Gemellol (Roma) 23:115-119. Klein D (1975):Les anomalies chromosomiques en clinique. Rev Suisse Med Praxis 64:148-160, 175-191. Mounoud RL, Klein D, Weber F (1975):A propos d’un cas de syndrome de Goldenhar: Intoxication aieue a la vitamine A chez la mere pendant la grossesse. Med H G 33289-291. Idem: J Genet Hum 23:135-154. Klein D, Mendez H (1975): Deux cas remarquable de dystrophie myotonique, le premier a debut thomsenien, le second avec des troubles de la motilite pharyngo-oesophagienne entrainant des complications broncho-pulmonaires. J Genet Hum 23:29-42. Klein D (1975): Necrologie: Professeur E. Frauchiger, 1903-1975. J Genet Hum 23:77, 78. Klein D (1975): Die chromosomalen Syndrome (Eine Uebersicht). Padiatr Padol [Suppll 4:l-31. Klein D, Tobler R, Koenig H (1975): Dysmorphie oculo-faciale avec peromelie et nanisme: Une nouvelle variante de dysplasie generalisee. Med Hyg 33:1481-1483. Pescia G, Ferrier PE, Wyss-Hutin D, Klein D (1975): 45,X Turner’s syndrome in monozygotic twin sisters. J Med Genet 12:390-396. Boreux G, Rudolf H, Miescher PA, Klein D (1975):Une thrombopathie hereditaire rare: L’anomalie de May-Hegglin. Guigoz, Service Doc Sci 985-6. Klein D (1975): A large family with myoclonic epilepsy in a Swiss isolate. (Am SOC Hum Genet, Baltimore, 9-11 October 1975).Am J Hum Genet 27:56A. Klein D (1975): Necrologie: Professeur Maurice Lamy, 1895-1975. J Genet Hum 23:353, 354. Crippa L, Klein D, Linder A (1976):Etude cytogenetique et statistique d’un groupe de patients traites a la butazolidine (phenylbutazone). J Genet Hum 24:l-13. Franceschetti ATh, Klein D, Dieterle P (1976): Jumelles monozygotiques atteintes de deuteranomalie concordante. J Genet Hum 24:281-290. Klein D (1976):Actualites: 5eme Congr&sinternational de Genetique humaine (Mexico, 10-15 October 1976).J Genet Hum 24:355-361. Klein D (1977):Quelques aspects ethiques en genetique humaine. Med Hyg 35:672, 673. Klein D, Bovard A, Berney J , Ricci A, Brocher JEW (1977): Aspects neuro-ophtalmologiques et genetiques d u n e famille atteinte de dysostose cranio-faciale de Crouzon. J Genet Hum 25:l-24; Rev Oto-Neuro-Ophtalmol 49:373-378. Klein D, Wyss D (1977):Retrospective and follow-up study of approximately 1000 genetic consultations. J Genet Hum 25:47-57. Klein D (1977): Les anomalies chromosomiques en clinique. Rev Int Pediatr 71:5-55. Dubosson JD, Klein D, Pettavel J, Rey ChD (1977):Syndrome du cancer familial a travers 4 generations. Schweiz Med Wochenschr 107:875-881. Klein D, Mounoud RL, Bettschart W, Cabrol C (1976119771: Wsultats preliminaires d u n e enquete clinique et cytogenetique portant sur 82 oligophrenes d u n e institution medico-educative. Arch Genet 49150:18-28.
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Klein D (1977):Les anomalies chromosomiques en clinique. I. Anomalies des chromosomes autosomiques. 11. Anomalies des chromosomes sexuels. Rev Int Pediatr 71:5-55. Klein D, Tobler R, Konig H (1977): Syndrome malformatif complexe associant une hypomelie, une hypotrichose, un hemangiome facial et des troubles oculaires. Med Hyg 35:3261-3266. Franceschetti A, Klein D, Fiore C, Korol S (1978):Albinisme oculaire et degenerescence tapeto-retinienne chez une fille de 10 ans. Klin Monatsbl Augenheilkd 172:484-487. Klein D, Crippa L, Marcoz JP, Bourquin D (1978): Les trisomies 18 a survie prolongee (au-dela de 10 ans) sont elks toutes des mosai’ques? J Genet Hum 26:145-160. Marcoz JP, Klein D (1978):Dystrophie myotonique a symptomatologie variable et a pronostic clinique favorable dans une grande famille. Wv Med Suisse Romande 98:431-441. Klein D, Tobler R, Konig H (1978): Hypomelia-hypotrichosis-facial hemangioma syndrome accociated with congenital glaucoma and other eye anomalies. Deutman AF, Cruysberg JRM (eds): “Doc Ophthalmol Proc Ser Neurogenet and Neuro-ophthalmol” (5th Internat Congr Nijmegen, 19771,Volume 17. The Hague: Dr. W. Junk Publishers, pp 383-391. Klein D, Rabinowicz Th (1978):Clinical and genetic aspects of certain neuro-ophthalmological diseases in Swiss isolates (Bardet-Biedl syndrome, myotonic dystroph myoclonic epilepsy). (Population Structure a. Genetic Disease, land Islands, 13-16 August 1978): London: Academic Press, pp 367-382. Klein D (1980):Vingt ans d’observation d’une famille atteinte de maladie de Behr (atrophie optique infantile compliquee heredo-familiale (Communication faite a la Societe d’Oto-neuro-ophtalmologie de Strasbourg-Nancy; reunion du 15 December 1979, Nancy). Rev Oto-Neuro-Ophtalmol (Paris) 52179-185. Klein D, Bourquin M, Korol S (1980): Heredoataxia, degenerescence tapeto-retinienne et signes dysmorphiques chez un garcon de 16 ans. Klin Monatsbl Augenheilkd 176:694-698. Klein D (1979): Genetics of tapetoretinal degenerations and allied disorders. In Shimizu K, Oosterhuis JA (eds): “XXIII Concilium Ophthalmologicum, Pars I (Kyoto, 1978).” Amsterdam: Excerpta Medica, pp 390-399. Klein D (1980): Ecentes experiences de conseil genetique en ophtalmologie. Med Hyg (Geneve) 38:3217-3220. Klein D (1980): Le conseil genetique au service des familles. Schweiz Rundsch Med Prax 69:1710-1721. Klein D (1980):Editorial: “Problemes actuels de genetique medicale.” Praxis, Bern 69:1681, 1682. Klein D (1980): In memoriam Dr. PJ Waardenburg, 1886-1979. Acta Genet Med Gemellol (Roma) 29:167, 168. Klein D, Dodinval P (1979):“La Genetique Humaine au Service de la Medecine.” Basel: Editiones “Roche” [et Geneve: Medecine et Hygiene], pp 422, 139 figures et 74 tableaux. Klein D, Dodinval P (1981): “La Genetica Humana a1 Servicio de la Medicina.” Basel: Ed. Roche, 422p. (Traduction espagnole). Huber A, Klein D (eds)(1981):“Neurogeneticsand Neuro-Ophthalmology” (Developments in Neurology, Vol. 5). Amsterdam: Elsevier. (Proceedings of the 6th International Congress of Neurogenetics a. Neuro-Ophthalmology, Zurich, 9-12 June, 1981) pp 432. Klein D (1981):The historical background of the Klein-Waardenburg syndrome. In Huber A, Klein D (eds): “Neurogenetics and NeuroOphthalmology.” Amsterdam: Elsevier, pp 369-377. Klein D, Marcoz JP, Mounoud RL, Bettschart W (1982):Usultat final dune investigation clinique, genetique et cytogenetique de 182 oligophrenas d u n e institution medico-educative. Schweiz Rundsch Med F’rax 71:1150-1157, 1209-1221. Babel J , Cabernard E, Klein D, Korol S, Krauchi H, Schafroth P (1982): Pseudo-inflammatory chorioretinal degeneration of the posterior pole. Study of a family of four affected generations, associated with tapetoretinal amaurosis (Leber) in the fifth generation. Graefes Arch Klin Exp Ophthalmol 219:236-251. Klein D (1983):Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (Type 111).Am J Med Genet 14231-239. Goodman RM, Lewithal I, Solomon A, Klein D (1982): Upper limb involvement in the Klein-Waardenburg syndrome. Am J Med Genet 11:425-433.
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Goodman RM, Levithal I, Solomon I, Klein D (1981): A survey of the Klein-Waardenburg syndrome in Israel with emphasis on upper extremity involvement: Evidence for further genetic heterogeneity-type 111. In Huber A, Klein D (eds): “Neurogenetics and Neuro-Ophthalmology.” Amsterdam: Elsevier 393-406. Klein D (1981):Sindromi degli archi branchiali. Prospettive Pediatria 13:29-35 (Congr. internat. sur l’identification des syndromes genetique en pediatrie, Florence 14-17 October 1982).
Klein D (1984):Historischer Riickblick auf die genetische Forschung in der Augenheilkunde. In Hammerstein W, Lisch W (eds):“Ophthalmologische Genetik, Diagnosis, Ravention, Rehabilitation.” Stuttgart: F. Enke, pp 7-20. Jaeger W, Klein D, Goebcl H, Krastel II (1984): Hereditare Erkrankungen der Netzhautperipherie. In Hammerstein W, Lisch W (eds):“OphthalmologischeGenetik, Diagnise, Pravention, Rehabilitation.” Stuttgart: F. Enke, p p 254-283. i
Klein D (1983): Syndromes oculo-auditifs d’interet genetique. Rivista siciliana di Medicina prenatale neonatale pediatrica e genetica. (Atti del I Congress0 su “La genetica della patologia congenita ed acquisita”, Palermo 23-24 September 1983).
Klein D, Giovannucci Uzielli ML, Di Lo110 S, Engel W, Rehder H (1985): Rare oculo-rhino-auditivevariants of the branchial arch syndrome. Ophthalmol Paediatr Genet 6:67-72.
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Babel J, Klein L), Roth A (1989): Leber’s congenital amaurosis associated with high hyperopia in four sisters. Ophthalmol Paediatr Genet 10:55-61 Roth A, Klein D, Paccolat F, Hermes D, Pelizzone M, Mandel JL, Feil R (1989):Le devenir des familles Protan and Deutan de Franceschetti ct Klein 11949 et 1956), une generation apres. Genealogie, vision coloree et A D N ghumique: (Present6 a la Societe frayaise d‘Ophtalmologie, Paris 8-11 May 1988). Publie in: Ophtalmologie (Paris) 3:275-278. Klcin D (1989): Die Entwicklung drr genetischen Forschung in der Augenheilkunde unter besonderer Beriicksichtigung der Schweiz. (82. Jahreskongress der Schweiz. ophthalmol. Gesellschaft. St-Gallen, 13-16 Septembre, 1989) (in press).
