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


YILMAZ UZMAN C., ÇANKAYA T., GÜLERYÜZ UÇAR H., ÜLGENALP A., GİRAY BOZKAYA Ö.

SKELETAL RADIOLOGY, vol.52, no.1, pp.115-118, 2023 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 52 Issue: 1
  • Publication Date: 2023
  • Doi Number: 10.1007/s00256-022-04105-6
  • Journal Name: SKELETAL RADIOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE
  • Page Numbers: pp.115-118
  • Keywords: TRPV4, Spondyloepimetaphyseal dysplasia, Skeletal dysplasia, SPONDYLOEPIPHYSEAL DYSPLASIA
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.