Adès L C, Clapton W K, Morphett A, Morris L L, Haan E A
Department of Medical Genetics, Women's and Children's Hospital (Adelaide Children's Hospital Division), North Adelaide, South Australia.
Am J Med Genet. 1994 Jan 15;49(2):211-7. doi: 10.1002/ajmg.1320490211.
We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely.