[Acrodysostosis].
Two unrelated males of 16 and 8 years of age with acrodysostosis were studied. They showed short stature, broad and hypoplastic nose and severe acromelic shortness. X-ray studies revealed bilateral brachymetacarpaly, brachymetatarsalia and brachyphalangia with hyperplasia of the first ray in hands and feet. Psychometric studies revealed an IQ of 85, the highest observed in the 22 cases so far reported. The variable expressivity of the syndrome is discussed on this basis. The hypothesis of an autosomal dominant "de novo" mutation as the cause of the entity is supported by the finding of increased paternal age.
D000293:Adolescent; D001830:Body Surface Area; D002648:Child; D004613:Ellis-Van Creveld Syndrome / Q000000981:diagnostic imaging*; D005528:Foot / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging
Acrodisostósis.