A case of progressive osseous heteroplasia: a first case in Japan.

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.

journal_name

Skeletal Radiol

journal_title

Skeletal radiology

authors

Kumagai K,Motomura K,Egashira M,Tomita M,Suzuki M,Uetani M,Shindo H

doi

10.1007/s00256-008-0469-9

subject

Has Abstract

pub_date

2008-06-01 00:00:00

pages

563-7

issue

6

eissn

0364-2348

issn

1432-2161

journal_volume

37

pub_type

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