American Journal of Medical Genetics 39:119-120 (1991)
Letter to the Editor Treacher Collins-Franceschetti Syndrome With Tracheoesophageal Fistula, Rectovaginal Fistula, and Anal Atresia: Variant, or New Syndrome? pregnancy showed fetal growth retardation with polyhydramnios; amniocentesis was declined. The child was delivered at term by cesarean section because of susTreacher Collins-Franceschetti sequence (TCFS) is a tained cardiac deceleration. Birth weight was 2,560 g particular type of mandibulofacial dysostosis (MFD)as- ( 4 5 centile). sociated with mandibular and malar hypoplasia, antiAt birth, the infant was noted (Figs. 1, 2) to have mongoloid slant of the palpebral fissures, coloboma of downslanted short palpebral fissures, deep-set eyes, colthe lower lid and/or iris, malformed auricles and ear oboma of the right iris at 6 o’clock and of the lower lids; canals, micrognathia, and other anomalies [Treacher prominent, wide nasal root; micrognathia; malformed Collins, 1900; Franceschetti and Klein, 1949; Gorlin et right pinna with absent external auditory canal; and an al., 19’761.It is an autosomal dominant trait with almost apparently high and narrow-arched palate. She had a complete penetrance and wide variability in expression,, tracheoesophageal fistula (type C) and rectovaginal fiswhich may be very subtle. It is estimated that 60% of tula with anal atresia. Otherwise she was normal, as cases are due t o new mutations [Jones, 19881. were her chromosomes. Facial anomalies similar to TCFS have been noted in We are not aware of any report of TCFS with trathe offspring of women exposed to vitamin A retinoids cheoesophageal fistula, rectovaginal fistula, and anal and this has provided information about the possible atresia. It is possible that this association is coincidental pathogenesis of MFD [Sulik et al., 19871. Isotretinoin or a variant of the TCFS. It is also possible, however, that exposure has been associated with esophageal atresia in this may represent a new syndrome. humans, and with anal atresia in the golden hamster ACKNOWLEDGMENTS [Rosa et al., 19861. A possible phenocopy of isotretinoin syndrome was reported [Lungarotti et al., 19871 in an We thank Dr. John Hortop for referring the case and infant with MFD, atrial septa1 defect, duodenal aplasia Ms. Irene Ferko for typing the manuscript. with marked gastric ectasia, extrahepatic biliary atresia, absence of the gallbladder, and severe bilateral renal hypoplasia. The mother was reported to have ingested a daily dose of vitamin A which is 25% of the usual amount in standard US prenatal vitamin supplements. In a review of the recent literature there were no reported cases of TCFS with gastrointestinal malformations, although one case has TCFS and achalasia [Schneider, 19871. We report here on a girl, K.B., born to a healthy 36year-old G2 P1 mother and a healthy 30-year-old nonconsanguineous father. Their other daughter, age 4 years, is healthy, with no apparent congenital anomalies. The pregnancy course was reported to be normal with no exposure to cigarettes, alcohol, or medications, retinoids in particular. An ultrasound study early in
To the Editor:
Fkceived for publication February 5,1990; revision received May
9, 1990. Address reprint requests to L.J. Robb, Division of Medical Genetics, The Montreal Children’s Hospital, 2300 Tupper Street, Montreal, Quebec, Canada, H3H 1P3.
0 1991 Wiley-Liss, Inc.
Fig. 1. Note coloboma of right iris, downslanted, short palpebral fissures, and prominent nasal root.
120
Robb et al. Gorlin FLJ,Pindborg JJ, Cohen MM (1976):,“Syndrome ofthe Head and Neck.” 2nd ed., New York: McGraw-Hill Co. pp 453-456. Jones KL (1988):“Smith’s Recognizable Patt,ernsof Human Malformation,” 4th ed. Philadelphia: W.B. Saunders Co. pp 210-211. Lungarotti MS, Marinelli D, Mariani T, Calabro A (1987): Multiple congenital anomalies associated with apparent normal maternal intake of vitamin A: A phenocopy ofthe isotretinoid syndrome? Am J Med Genet 27:245-248. Rosa WF, Wilk AL, Kesley FO (1986):Vitamin A congeners. In Sever JL, Brent RL (eds): “Teratogen Update, Environmentally Induced Birth Defect Risks.” New York: Alan R. Liss, Inc., pp 61-70. Schneider RP (1987):“reacher Collins syndrome and achalasia. J Clin Gastroenterol 9:693-696. Sulik KK, Johnston MC, Smiley SJ, Speight HS, Jarvis BE (1957): Mandibulofacial dysostosis (“reacher Collins syndrome): A new proposal for its pythogenesis. Am J Med Genet 27:359-372. Treacher Collins E (1900):Case with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans Ophthalmol Sec U.K. 20:90.
Fig. 2. Note abnormal right pinna and micrognathia
REFERENCES Franceschetti A, Klein D (1949): The mandibulo-facial dysostosis. A new hereditary syndrome. Acta Ophthalmol (Copenh)27:143-229, 1949.
Laura J. Robb F. Clarke Fraser Vazken M. Der Kaloustian Division of Medical Genetics The Montreal Children’s Hospital Centre for Human Genetics McGill University Montreal, Quebec, Canada
Letter to the Editor Treacher Collins-Franceschetti Syndrome With Tracheoesophageal Fistula, Rectovaginal Fistula, and Anal Atresia: Variant, or New Syndrome? pregnancy showed fetal growth retardation with polyhydramnios; amniocentesis was declined. The child was delivered at term by cesarean section because of susTreacher Collins-Franceschetti sequence (TCFS) is a tained cardiac deceleration. Birth weight was 2,560 g particular type of mandibulofacial dysostosis (MFD)as- ( 4 5 centile). sociated with mandibular and malar hypoplasia, antiAt birth, the infant was noted (Figs. 1, 2) to have mongoloid slant of the palpebral fissures, coloboma of downslanted short palpebral fissures, deep-set eyes, colthe lower lid and/or iris, malformed auricles and ear oboma of the right iris at 6 o’clock and of the lower lids; canals, micrognathia, and other anomalies [Treacher prominent, wide nasal root; micrognathia; malformed Collins, 1900; Franceschetti and Klein, 1949; Gorlin et right pinna with absent external auditory canal; and an al., 19’761.It is an autosomal dominant trait with almost apparently high and narrow-arched palate. She had a complete penetrance and wide variability in expression,, tracheoesophageal fistula (type C) and rectovaginal fiswhich may be very subtle. It is estimated that 60% of tula with anal atresia. Otherwise she was normal, as cases are due t o new mutations [Jones, 19881. were her chromosomes. Facial anomalies similar to TCFS have been noted in We are not aware of any report of TCFS with trathe offspring of women exposed to vitamin A retinoids cheoesophageal fistula, rectovaginal fistula, and anal and this has provided information about the possible atresia. It is possible that this association is coincidental pathogenesis of MFD [Sulik et al., 19871. Isotretinoin or a variant of the TCFS. It is also possible, however, that exposure has been associated with esophageal atresia in this may represent a new syndrome. humans, and with anal atresia in the golden hamster ACKNOWLEDGMENTS [Rosa et al., 19861. A possible phenocopy of isotretinoin syndrome was reported [Lungarotti et al., 19871 in an We thank Dr. John Hortop for referring the case and infant with MFD, atrial septa1 defect, duodenal aplasia Ms. Irene Ferko for typing the manuscript. with marked gastric ectasia, extrahepatic biliary atresia, absence of the gallbladder, and severe bilateral renal hypoplasia. The mother was reported to have ingested a daily dose of vitamin A which is 25% of the usual amount in standard US prenatal vitamin supplements. In a review of the recent literature there were no reported cases of TCFS with gastrointestinal malformations, although one case has TCFS and achalasia [Schneider, 19871. We report here on a girl, K.B., born to a healthy 36year-old G2 P1 mother and a healthy 30-year-old nonconsanguineous father. Their other daughter, age 4 years, is healthy, with no apparent congenital anomalies. The pregnancy course was reported to be normal with no exposure to cigarettes, alcohol, or medications, retinoids in particular. An ultrasound study early in
To the Editor:
Fkceived for publication February 5,1990; revision received May
9, 1990. Address reprint requests to L.J. Robb, Division of Medical Genetics, The Montreal Children’s Hospital, 2300 Tupper Street, Montreal, Quebec, Canada, H3H 1P3.
0 1991 Wiley-Liss, Inc.
Fig. 1. Note coloboma of right iris, downslanted, short palpebral fissures, and prominent nasal root.
120
Robb et al. Gorlin FLJ,Pindborg JJ, Cohen MM (1976):,“Syndrome ofthe Head and Neck.” 2nd ed., New York: McGraw-Hill Co. pp 453-456. Jones KL (1988):“Smith’s Recognizable Patt,ernsof Human Malformation,” 4th ed. Philadelphia: W.B. Saunders Co. pp 210-211. Lungarotti MS, Marinelli D, Mariani T, Calabro A (1987): Multiple congenital anomalies associated with apparent normal maternal intake of vitamin A: A phenocopy ofthe isotretinoid syndrome? Am J Med Genet 27:245-248. Rosa WF, Wilk AL, Kesley FO (1986):Vitamin A congeners. In Sever JL, Brent RL (eds): “Teratogen Update, Environmentally Induced Birth Defect Risks.” New York: Alan R. Liss, Inc., pp 61-70. Schneider RP (1987):“reacher Collins syndrome and achalasia. J Clin Gastroenterol 9:693-696. Sulik KK, Johnston MC, Smiley SJ, Speight HS, Jarvis BE (1957): Mandibulofacial dysostosis (“reacher Collins syndrome): A new proposal for its pythogenesis. Am J Med Genet 27:359-372. Treacher Collins E (1900):Case with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans Ophthalmol Sec U.K. 20:90.
Fig. 2. Note abnormal right pinna and micrognathia
REFERENCES Franceschetti A, Klein D (1949): The mandibulo-facial dysostosis. A new hereditary syndrome. Acta Ophthalmol (Copenh)27:143-229, 1949.
Laura J. Robb F. Clarke Fraser Vazken M. Der Kaloustian Division of Medical Genetics The Montreal Children’s Hospital Centre for Human Genetics McGill University Montreal, Quebec, Canada
