Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis.
We describe a woman and her daughter affected by brachydactyly type C. The unusual feature in the child included the striking 'angel-shaped' appearance of the proximal phalanges of the index and middle fingers of one hand, whereas more typical triangular epiphyses with elongation of their radial side were present at the same location in the opposite hand. It is suggested that this peculiar phalangeal configuration occurs as a transitory event in early or mid childhood in phalanges that are marked by severe ossification delay, which is most prominent at the level of the primary ossification centre.
Castriota-Scanderbeg
Alessandro
A
Department of Radiology, Foundation Ospedale Card. G. Panico, via S. Pio X, 4, Tricase (Le), Italy. scanderbeg@piafondazionepanico.it
Garaci
Francesco Giuseppe
FG
Beluffi
Giampiero
G
D000328:Adult; D001848:Bone Diseases, Developmental / Q000151:congenital; D004838:Epiphyses / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005500:Follow-Up Studies; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008663:Metacarpus / Q000002:abnormalities; D013933:Thumb / Q000002:abnormalities