Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis

Castriota-Scanderbeg, Alessandro
Garaci, Francesco Giuseppe
Beluffi, Giampiero

¹Department of Radiology, Foundation “Ospedale Card. G. Panico”, via S. Pio X, 4, Tricase (Le), Italy
²Department of Diagnostic Imaging and Interventional Radiology, University of Rome Tor Vergata, Rome, Italy
³Department of Radiology, Section of Paediatric Radiology, IRCCS Policlinico S. Matteo, Pavia, Italy

Received: 5 August 2004/Accepted: 6 September 2004/Published online: 23 November 2004

Pediatric Radiology 35(5):p 535-538, May 2005. | DOI: 10.1007/s00247-004-1362-x

Abstract

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.