Orthopedics - Oleksa A.P. 2006

Pathophysiology of Joints
Developmental Defects and Congenital Skeletal Anomalies
Hypophosphatasia Syndrome

This invariably fatal syndrome was first described in 1948 and is inherited in an autosomal recessive manner (Rathbun J.C., 1948). Affected children are either stillborn or die in early childhood due to pulmonary complications. The syndrome is associated with Rickets and manifests as short stature with poor bone mineralization, rachitic "rosary" of the Ribs, anemia, and hypercalcemia. It is also characterized by decreased serum alkaline phosphatase levels and elevated urinary phosphoethanolamine. A milder autosomal dominant form has been described in the literature, and prenatal Diagnosis was reported by Warren R.C., Mc Kenzie C.F., Rodeck C.H. (1985).



Last update: 10/08/2026

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