| Literature DB >> 8116671 |
L C Adès1, W K Clapton, A Morphett, L L Morris, E A Haan.
Abstract
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.Entities:
Mesh:
Year: 1994 PMID: 8116671 DOI: 10.1002/ajmg.1320490211
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299