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...

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Bibliographic Details
Published in:Pediatric radiology 2005-05, Vol.35 (5), p.535-538
Main Authors: Castriota-Scanderbeg, Alessandro, Garaci, Francesco Giuseppe, Beluffi, Giampiero
Format: Article
Language:English
Subjects:
Adult
Bone Diseases, Developmental - congenital
Epiphyses - abnormalities
Female
Fingers - abnormalities
Follow-Up Studies
Hand Deformities, Congenital - genetics
Humans
Infant, Newborn
Metacarpus - abnormalities
Thumb - abnormalities
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Summary: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.
ISSN:0301-0449
1432-1998
DOI:10.1007/s00247-004-1362-x