A large family with patent ductus arteriosus and unusual face.
A large family is described in which patent ductus arteriosus in association with an unusual facial appearance affected nine family members in three generations. The segregation pattern suggests autosomal dominant inheritance with incomplete penetrance with respect to the PDA. The facial features included a broad, high forehead, flat profile, and short nose with a broad, flattened tip.
Davidson
H R
HR
Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004374:Ductus Arteriosus, Patent / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010826:Physiognomy