Familial combination of brachydactyly, type E and atrial septal defect, type II.
Nine members of a three generation family were affected with the combination of brachydactyly, type E and heart defect, mainly atrial septal defect, type II. A similar malformation pattern of autosomal dominant origin has not previously been delineated.
Czeizel
A
A
Department of Human Genetics and Teratology, National Institute of Hygiene, Budapest, Hungary.
Göblyös
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D011859:Radiography; D013577:Syndrome