| Literature DB >> 7645594 |
Abstract
We describe 7 relatives with patent ductus arteriosus (PDA) and a slightly unusual facial appearance with prominent midface with nose elongation and flattening of the nasal bridge, wide-set eyes, downturned palpebral fissures, mild ptosis, thickened lips, and apparently slightly low-set ears. Autosomal dominant inheritance is suggested in this family. Other families where affected members have PDA and a similar facial appearance and autosomal dominant inheritance were described previously by Char [1978: BD:OAS XIV (6B):303-305] and Temple [1992: Clin Dysmorphol 1:17-21].Entities:
Mesh:
Year: 1995 PMID: 7645594 DOI: 10.1002/ajmg.1320570108
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299