brachydactyly

• During the period of bone growth, the hallmark is "cone epiphysis," the apex of which protrudes into the adjacent metaphysis. Epiphyses close prematurely leading to short, broad tubular bones.

DDx:

• tricho-rhino-phalangeal syndrome
• pseudohypoparathyroidism
• syndrome of peripheral dysostosis
• nasal hypoplasia and mental retardation
• isolated anomaly

© 2002, C.E. Kahn, Jr.
2002-04-18