Article
Hadju-Cheney syndrome: response to therapy with bisphosphonates in two patients.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jan 2003
Drake W M, Hiorns M P, Kendler D L
Abstract excerpt
Hadju-Cheney syndrome is characterized by short stature, distinctive facies, and a slowly progressive skeletal dysplasia including acro-osteolysis. Autosomal dominant inheritance is typical, but the genetic defect and molecular pathogenesis of the syndrome are unknown. Osteoporosis with atraumatic fracture is a frequent finding, and previous studies have documented biochemical and morphometric evidence of high...
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