Progressive osseous heteroplasia in the face of a child. Academic Article uri icon

Overview

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.

publication date

  • April 1, 2003

Research

keywords

  • Facial Bones
  • Osteoma

Identity

Scopus Document Identifier

  • 0042822034

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.10170

PubMed ID

  • 12605446

Additional Document Info

volume

  • 118A

issue

  • 1