[Syndromes 2. Pfeiffer syndrome].
Acrocephalosyndactylias are syndromes characterized by abnormalities of the head (craniosynostosis), the face (hypertelorism, retromaxillism), hands and feet (cutaneous or bony syndactyly). Inheritance is autosomal dominant, but spontaneous cases are described also. The group is divided into several syndromes with varying penetrance and expressivity. As an example of an acrocephalosyndactylia is the Pfeiffer syndrome presented.
Freihofer
H P
HP
Afdeling Mond- en Kaakchirurgie, Academisch Ziekenhuis Nijmegen, postbus 9101, 6500 HB Nijmegen.
D000015:Abnormalities, Multiple / Q000235:genetics; D000168:Acrocephalosyndactylia / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics; D013577:Syndrome
Syndromen 2. Syndroom van Pfeiffer.