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
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
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.