Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report

Introduction Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular atrophy and hereditary motor and sensory neuropathy. Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplas...

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Bibliographic Details
Published in:	Skeletal radiology Vol. 52; no. 1; pp. 115 - 118
Main Authors:	Uzman, Ceren Yılmaz, Çankaya, Tufan, Güleryüz, Handan, Ülgenalp, Ayfer, Bozkaya, Özlem Giray
Format:	Journal Article
Language:	English
Published:	Berlin/Heidelberg Springer Berlin Heidelberg 2023 Springer Springer Nature B.V
Subjects:	Age Atrophy Bone Diseases, Developmental - pathology Bone dysplasia Bones Brachydactyly Case Report Case reports Cysts Dysplasia Fractures Genetic aspects Genetic disorders Humans Imaging Male Medical personnel Medicine Medicine & Public Health Metacarpal Mutation Neuromuscular diseases Neuropathy Nuclear Medicine Orthopedics Osteochondrodysplasias - diagnostic imaging Osteochondrodysplasias - genetics Osteochondrodysplasias - pathology Pathology Patients Pediatrics Phenotype Phenotypes Radiology Scoliosis Spinal muscular atrophy TRPV Cation Channels - genetics Vertebrae Spondyloepimetaphyseal dysplasia TRPV4 Skeletal dysplasia
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Summary:	Introduction Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular atrophy and hereditary motor and sensory neuropathy. Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplasias characterized by mild epiphyseal dysplasia, flared metaphyses, prominent joints, spondyler dysplasia, and brachydactyly with various carpal, metacarpal, and finger malformations. Case presentation We present a boy who has the clinical and radiological signs of SEMD-M with a dominant TRPV4 mutation. He also has some striking findings that have not been seen in these patients before, and they may be able to provide assistance to medical professionals in the process of diagnosis.These include a shorter distance between his lumbar vertebrae, congenital contractures, and an arachnoid cyst.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0364-2348 1432-2161
DOI:	10.1007/s00256-022-04105-6