pyknodysostosis

• autosomal recessive
• dense, sclerotic bones
  [Cf: osteopetrosis (sporadic, not inherited)]

• open cranial sutures + fontanelles
• Wormian bones
• dolichocephaly

• sclerotic vertebrae
• fractured long bones

• short, stubby hands
• partial agenesis/aplasia of terminal phalanges
  [simulates acro-osteolysis]

© 2002, C.E. Kahn, Jr.
2002-04-18