Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome.
A family is described in which craniosynostosis is associated with characteristic pinnae, a short columella, and symmetrical syndactyly of the fourth and fifth toes, inherited as an autosomal dominant condition. Various dominantly inherited syndromes involving craniosynostosis have been identified, but the constellation of findings in this family suggests a new syndrome different from those previously described.
Kurczynski
T W
TW
Medical College of Ohio, Toledo.
Casperson
S M
SM
D003398:Craniosynostoses / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome