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Article

A case of Raine syndrome presenting with facial dysmorphy and review of literature.

BMC medical genetics - 11 May 2018

Sheth Jayesh, Bhavsar Riddhi, Gandhi Ajit, Sheth Frenny, Pancholi Dhairya

Abstract excerpt

BACKGROUND: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental abnormalities, and developmental delay. Most of the cases result in...

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Identifiers

PMID: 29751744
DOI: 10.1186/s12881-018-0593-x
PMCID: PMC5948820

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A case of Raine syndrome presenting with facial dysmorphy and review of literature.PMID 29751744Read ↗

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