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

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

Abstract 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 hypopla...

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Bibliographic Details
Main Authors: Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi
Format: Article
Language:English
Published: BMC 2018-05-01
Series:BMC Medical Genetics
Subjects:
Case report
Developmental delay
Facial dysmorphy
FAM20C gene
Osteosclerosis
Raine syndrome
Online Access:http://link.springer.com/article/10.1186/s12881-018-0593-x

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http://link.springer.com/article/10.1186/s12881-018-0593-x

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