A LARGE FAMILY WITH PATENT DUCTUS-ARTERIOSUS AND UNUSUAL FACE

Authors
DAVIDSON HR
Citation
Hr. Davidson, A LARGE FAMILY WITH PATENT DUCTUS-ARTERIOSUS AND UNUSUAL FACE, Journal of Medical Genetics, 30(6), 1993, pp. 503-505
Citations number
8
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
30
Issue
6
Year of publication
1993
Pages
503 - 505
Database
ISI
SICI code
0022-2593(1993)30:6<503:ALFWPD>2.0.ZU;2-W
Abstract
A large family is described in which patent ductus arteriosus in assoc iation with an unusual facial appearance affected nine family members in three generations. The segregation pattern suggests autosomal domin ant inheritance with incomplete penetrance with respect to the PDA. Th e facial features included a broad, high forehead, flat profile, and s hort nose with a broad, flattened tip.