| Literature DB >> 1756608 |
Abstract
An autosomal dominant dysplasia-malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia. It appears to be the second recorded example resulting from an autosomal dominant gene fully penetrant in both sexes.Entities:
Mesh:
Year: 1991 PMID: 1756608 DOI: 10.1111/j.1399-0004.1991.tb03106.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438