A case of progressive osseous heteroplasia: a first case in Japan.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 18309480.
- Also identified by DOI 10.1007/s00256-008-0469-9.
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Abstract
Progressive osseous heteroplasia (POH) is a rare, hereditary, disorder (number 166350 in Mendelian Inheritance in Man), which was first identified in 1994 and is characterized by dermal ossification beginning in infancy as a result of increasing and extensive bone formation in deep muscle and fascia. We describe a boy with typical clinical, radiographic, and genetic features of POH. A nonsense mutation in exon 7 of the GNAS1 gene was identified in genomic DNA from the patient. No such case has been reported in East Asia or Japan before this patient.
Medical subject headings
- Asian People
- GTP-Binding Protein alpha Subunits, Gs
- Ossification, Heterotopic