Congenital Digital Abnormalities

July 18, 2014

This man was born with digital deformities. X-rays show absent middle and distal 2nd, 3rd, and 4th phalanges with tapering proximal phalanges and tapering of the distal 5th phalanx and distal 1st phalanx. No TBX5 gene mutation. What’s your diagnosis?

A 45-year-old man asks whether his children could inherit his digital deformities. X-rays showed an absence of the middle and distal second, third, and fourth phalanges with tapering proximal phalanges and tapering of the distal fifth phalanx and distal first phalanx. Phenotypic and chromosomal analyses were negative for TBX5 gene mutation.

What’s your diagnosis?