Pitfalls of genetic counselling in brachydactyly type C.
A familial case of brachydactyly type C is presented in which hand radiographs of the proposita's parents was considered normal. The metacarpophalangeal profile pattern of the mother's hands demonstrated minimal manifestations typical of brachydactyly type C.
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Service for Clinical Genetics and Dysmorphology, Galliera Hospital, Genoa, Italy.
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D000328:Adult; D002675:Child, Preschool; D005260:Female; D005384:Finger Joint / Q000002:abnormalities / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005817:Genetic Counseling; D006228:Hand Deformities, Congenital / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008663:Metacarpus / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography