Pfeiffer's syndrome family tree. Review of the literature.
Pfeiffer's syndrome is an autosomal dominant disorder characterized by craniofacial abnormalities and distal extremity abnormalities. This case study reviews four generations of a family with craniofacial abnormalities, multiple simple syndactylies, and delta phalanges of bilateral great toes and thumbs inherited in an autosomal dominant fashion.
Lyon
J R
JR
Shriners Hospital for Crippled Children, Lexington Unit, Kentucky.
Burgess
R C
RC
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008663:Metacarpus / Q000002:abnormalities / Q000000981:diagnostic imaging; D010375:Pedigree; D011859:Radiography