Familial brachydactyly and chondrocalcinosis. Report of a patient, pedigree and review of the literature.
Familial brachydactyly has been recognized for many years but no published accounts report associated chondrocalcinosis. We recently evaluated such a patient and report the occurrence of brachydactyly in 4 generations of his kindred. The pattern of brachydactyly in this pedigree suggest autosomal dominant inheritance that is the mode of inheritance in most kindreds. The prepositus with chondrocalcinosis has longstanding arthralgias of both knees as does at least one other close relative who also has brachydactyly. The possibility that chondrocalcinosis may be part of the syndrome is suggested but awaits further clarification.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002805:Chondrocalcinosis / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014034:Toes / Q000002:abnormalities*