Cryptodontic brachymetacarpalia.
Cryptodontic brachymetacarpalia is presumably a new syndrome comprising a) shortened metacarpals and metatarsals, b) short terminal thumbs. c) short straight clavicles, d) multiple impacted teeth and e) autosomal dominant transmission. Affected individuals have a marked clinical similarity to patients with pseudohypoparathyroidism, but in cryptodontic brachymetacarpalis the somatic and mental growth is normal, cataracts and ectopic calcification are absent and there are no evident abnormalities in serum calcium, phosphorus or response to parathormone. A family is presented with proven male-to-male transmission.
D000328:Adult; D002968:Clavicle / Q000002:abnormalities; D003937:Diagnosis, Differential; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008663:Metacarpus / Q000002:abnormalities*; D010375:Pedigree; D011547:Pseudohypoparathyroidism / Q000175:diagnosis; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014095:Tooth, Impacted / Q000235:genetics*