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.
Service for Clinical Genetics and Dysmorphology, Galliera Hospital, Genoa, Italy.
G
G
Camera
A
A
Camera
M
M
Costa
R
R
Mantero
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