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Hadju‐Cheney Syndrome: Response to Therapy With Bisphosphonates in Two Patients
Author(s) -
Drake WM,
Hiorns MP,
Kendler DL
Publication year - 2003
Publication title -
journal of bone and mineral research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.882
H-Index - 241
eISSN - 1523-4681
pISSN - 0884-0431
DOI - 10.1359/jbmr.2003.18.1.131
Subject(s) - medicine , osteoporosis , bone resorption , short stature , dysplasia , osteochondrodysplasia , osteoclast , bone remodeling , alendronic acid , pathogenesis , endocrinology , bioinformatics , bisphosphonate , pathology , biology , receptor
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 bone turnover. Here, we report the clinical details and response to therapy with bisphosphonates in two patients (mother and son) with Hadju‐Cheney syndrome and postulate that osteoclast‐mediated bone resorption is important in the generalized osteoporosis commonly associated with this condition.