American Journal of Medical Genetics 35449-450 (1990)
Letter to the Editor Brief Historical Note on the Brachmann-de Lange Syndrome: A Patient Closely Resembling the Case Described by Brachmann in 1916 To the Editor: Recently we saw a male infant in whom a n unequivocal diagnosis of Brachmann-de Lange syndrome (BDLS) was possible at first glance. The striking resemblance of this patient to the patient published by Brachmann in 1916 prompted us to submit this brief note. Our patient O1.Fi. is the second child of young and healthy parents. During the third trimester, oligohydramnios and growth retardation were disclosed by ultrasonography. Because of acute deceleration, cesarean section was performed a t 34 weeks. The newborn male was markedly dystrophic, length was 39 cm, weight 1,290 g, and head circumference 27 cm (all below the 3rd centile). Aside from typical BDLS facial appearance and generalized hypertrichosis (Fig. l),the arms were short and flexed a t the elbow with antecubital web (Fig. 2). The hands were monodactylous with severe ulnar defects. Nipples appeared to be small. Penis was short and ventrally flexed with first-degree hypospadias. There was mild cutaneous syndactyly between the 2nd and 3rd toe bilaterally. Clinical evaluation provided no evidence of any internal malformation. Radiographs of the thorax and upper limbs showed a cervical rib, lateral hooks of the clavicles, slightly short humeri, absent ulnae, markedly short radii, and monodactylous hands (Fig. 3). The clinical course was characterized by initial respiratory distress leading to artificial respiration for 4 days. Thereafter the infant’s basal functions gradually stabilized. Feeding by gastric tube, which was necessary for a period of 9 weeks, was gradually replaced by natural feeding. Psychomotor development is markedly retarded at age 6 months. Compared to our patient, the fetus described in detail by Brachmann [19161 also had dystrophy, hypertrichosis, microcephaly, short and flexed arms with antecubital webbing, monodactylous hands, cervical ribs, and a similar genital anomaly. In addition, the facial
Received for publication May 25,1989; revision received August 10, 1989. Address reprint requests to Dr. Peter Meinecke, Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus, Bleickenallee 38, D-2000 Hamburg 50, Federal Republic of Germany.
0 1990 Wiley-Liss, Inc.
Fig. 1. Newborn male with Brachmann-de Lange syndrome. Fig. 2. Short flexed arm with antecubital webbing and monodactylous hand.
characteristics depicted in Brachmann’s paper (Fig. 4) are highly reminiscent of the faces of patients with severe BDLS. Thus, with the reservation that our patient is truly a typically affected BDLS patient, this observa-
Fig. 3. Radiograph of the left arm showing absent ulna, abnormal radius, and monodactylous hand.
450
Meinecke and Hayek More recently and in full detail, Opitz [1985] commented on this topic again and argued for use of the eponym “Brachmann-de Lange syndrome.” Impressed by the striking similarity of the pattern of multiple anomalies described by Brachmann [19161, almost identical to those seen in our patient, we regard this eponymic designation as justified and therefore preferable,
REFERENCES Brachmann W (1916):Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormitaten (Zwerghaftigkeit, Halsrippen, Behaarung). J b Kinderheilkd 84:225-235. Opitz J M (1985): Editorial comment: The Brachmann-de Lange syndrome. Am J Med Genet 22:89-102. Opitz JM, Segal AT, Lehrke R, Nadler H (1964): Letter to the editor: Brachmann-de Lange syndrome. Lancet 2:1019.
Fig. 4. Reproduction of Figures 2 and 4 from the paper by Brachmann t19161.
tion gives strong support to the hypothesis first published by Opitz et al. [19641. Their hypothesis was that Brachmann’s case is an example of that syndrome published by de Lange in 1933 and later termed “Cornelia de Lange syndrome.”
Peter Meinecke Hubert Hayek Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus (P.M.) RadiologieiSonographie, Kinderkrankenhaus Wilhelmstift (H.H.) D-2000 Hamburg, Federal Republic of Germany
Letter to the Editor Brief Historical Note on the Brachmann-de Lange Syndrome: A Patient Closely Resembling the Case Described by Brachmann in 1916 To the Editor: Recently we saw a male infant in whom a n unequivocal diagnosis of Brachmann-de Lange syndrome (BDLS) was possible at first glance. The striking resemblance of this patient to the patient published by Brachmann in 1916 prompted us to submit this brief note. Our patient O1.Fi. is the second child of young and healthy parents. During the third trimester, oligohydramnios and growth retardation were disclosed by ultrasonography. Because of acute deceleration, cesarean section was performed a t 34 weeks. The newborn male was markedly dystrophic, length was 39 cm, weight 1,290 g, and head circumference 27 cm (all below the 3rd centile). Aside from typical BDLS facial appearance and generalized hypertrichosis (Fig. l),the arms were short and flexed a t the elbow with antecubital web (Fig. 2). The hands were monodactylous with severe ulnar defects. Nipples appeared to be small. Penis was short and ventrally flexed with first-degree hypospadias. There was mild cutaneous syndactyly between the 2nd and 3rd toe bilaterally. Clinical evaluation provided no evidence of any internal malformation. Radiographs of the thorax and upper limbs showed a cervical rib, lateral hooks of the clavicles, slightly short humeri, absent ulnae, markedly short radii, and monodactylous hands (Fig. 3). The clinical course was characterized by initial respiratory distress leading to artificial respiration for 4 days. Thereafter the infant’s basal functions gradually stabilized. Feeding by gastric tube, which was necessary for a period of 9 weeks, was gradually replaced by natural feeding. Psychomotor development is markedly retarded at age 6 months. Compared to our patient, the fetus described in detail by Brachmann [19161 also had dystrophy, hypertrichosis, microcephaly, short and flexed arms with antecubital webbing, monodactylous hands, cervical ribs, and a similar genital anomaly. In addition, the facial
Received for publication May 25,1989; revision received August 10, 1989. Address reprint requests to Dr. Peter Meinecke, Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus, Bleickenallee 38, D-2000 Hamburg 50, Federal Republic of Germany.
0 1990 Wiley-Liss, Inc.
Fig. 1. Newborn male with Brachmann-de Lange syndrome. Fig. 2. Short flexed arm with antecubital webbing and monodactylous hand.
characteristics depicted in Brachmann’s paper (Fig. 4) are highly reminiscent of the faces of patients with severe BDLS. Thus, with the reservation that our patient is truly a typically affected BDLS patient, this observa-
Fig. 3. Radiograph of the left arm showing absent ulna, abnormal radius, and monodactylous hand.
450
Meinecke and Hayek More recently and in full detail, Opitz [1985] commented on this topic again and argued for use of the eponym “Brachmann-de Lange syndrome.” Impressed by the striking similarity of the pattern of multiple anomalies described by Brachmann [19161, almost identical to those seen in our patient, we regard this eponymic designation as justified and therefore preferable,
REFERENCES Brachmann W (1916):Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormitaten (Zwerghaftigkeit, Halsrippen, Behaarung). J b Kinderheilkd 84:225-235. Opitz J M (1985): Editorial comment: The Brachmann-de Lange syndrome. Am J Med Genet 22:89-102. Opitz JM, Segal AT, Lehrke R, Nadler H (1964): Letter to the editor: Brachmann-de Lange syndrome. Lancet 2:1019.
Fig. 4. Reproduction of Figures 2 and 4 from the paper by Brachmann t19161.
tion gives strong support to the hypothesis first published by Opitz et al. [19641. Their hypothesis was that Brachmann’s case is an example of that syndrome published by de Lange in 1933 and later termed “Cornelia de Lange syndrome.”
Peter Meinecke Hubert Hayek Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus (P.M.) RadiologieiSonographie, Kinderkrankenhaus Wilhelmstift (H.H.) D-2000 Hamburg, Federal Republic of Germany
