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Am J Med Genet A. 2003 Apr 1;118A(1):71-5.

Progressive osseous heteroplasia in the face of a child.

Author information

1
Department of Otolaryngology and Pediatrics, Children's Hospital of Michigan, Detroit, 48201, USA. rfaust@dmc.org

Abstract

We describe a rare case of progressive osseous heteroplasia of the face in a child. Biopsy showed osteoma cutis superficially with ectopic bone formation in the deeper tissues including skeletal muscle. Analysis of DNA from peripheral blood leukocytes showed mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1), confirming the diagnosis of progressive osseous heteroplasia.

PMID:
12605446
DOI:
10.1002/ajmg.a.10170
[Indexed for MEDLINE]

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