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

BMC Medical Genetics
Jayesh ShethDhairya Pancholi

Abstract

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 neonatal death. However, a few non-lethal RS cases have been reported where patients survive till adulthood and exhibits a heterogeneous clinical phenotype. Clinical diagnosis of RS has been done through facial appearance and radiological findings, while confirmatory diagnosis has been conducted through a molecular study of the FAM20C gene. A 6-year-old girl was born to healthy third degree consanguineous parents. She presented with facial dysmorphy, delayed speech, and delayed cognition. Radiography showed small sclerotic areas in the lower part of the right femur, and an abnormally-shaped skull with minimal sclerosis in the lower occipital region. Computer tomography scan of the brain revealed mild cortical atrophy, and MRI scan of the brain showed corpus callosal dysgenesis with the absence of the rostral area. Chromosome bandin...Continue Reading

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Jul 13, 2019·American Journal of Medical Genetics. Part a·Christina Y HungOlaf Bodamer
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Datasets Mentioned

BETA
SCV000583504.1

Methods Mentioned

BETA
cesarean section
cytogenetic aberrations
exome sequencing
PCR
electrophoresis

Software Mentioned

Mutation Taster
iStable
Studio
PolyPhen
Polyphen2
Discovery
PROVEAN
Basic Local Alignment Search Tool ( BLAST )
Clastal Omega
ClinVar

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