POLYDACTYLY, CAMPOMELIA, AMBIGUOUS GENITALIA, CYSTIC DYSPLASTIC KIDNEYS, AND CEREBRAL MALFORMATION IN A FETUS OF CONSANGUINEOUS PARENTS - ANEW MULTIPLE MALFORMATION SYNDROME, OR A SEVERE FORM OF ORAL-FACIAL-DIGITAL SYNDROME TYPE-IV

Citation
Lc. Ades et al., POLYDACTYLY, CAMPOMELIA, AMBIGUOUS GENITALIA, CYSTIC DYSPLASTIC KIDNEYS, AND CEREBRAL MALFORMATION IN A FETUS OF CONSANGUINEOUS PARENTS - ANEW MULTIPLE MALFORMATION SYNDROME, OR A SEVERE FORM OF ORAL-FACIAL-DIGITAL SYNDROME TYPE-IV, American journal of medical genetics, 49(2), 1994, pp. 211-217
Citations number
21
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
49
Issue
2
Year of publication
1994
Pages
211 - 217
Database
ISI
SICI code
0148-7299(1994)49:2<211:PCAGCD>2.0.ZU;2-N
Abstract
We describe a 27-week fetus with occipitoschisis, polydactyly, campome lia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fib rosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic ki dneys, and brain malformation. This pattern of abnormalities appears u nique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely. (C) 1994 Wiley -Liss, Inc.