Orthopedics > OCOSH Classification > Bone Diseases > Metabolic Bone Diseases > Pathologic Bone Demineralization > Hypophosphatasia > Adult Type Hypophosphatasia OMIM
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Adult Type Hypophosphatasia OMIM
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Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146300
Description: #146300 HYPOPHOSPHATASIA, ADULT TYPE
Alternative titles; symbols
HYPOPHOSPHATASIA, MILD
ODONTOHYPOPHOSPHATASIA, INCLUDED
Clinical features were early loss of teeth, bowed legs diagnosed as rickets and requiring osteotomy, and beaten-copper appearance of skull x-ray. The propositus had served in the U.S. Air Force. Danovitch et al. (1968) also suggested dominant inheritance as the mechanism in the family they studied.
Type: Reference Material
Author/Contact: McKusick et al
Institution: OMIM
Primary Subject/Category:
Submitted by: admin
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Added: Sat Mar 31 2007