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, cilt.52, sa.1, ss.115-118, 2023 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 52 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1007/s00256-022-04105-6
  • Dergi Adı: SKELETAL RADIOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.115-118
  • Anahtar Kelimeler: TRPV4, Spondyloepimetaphyseal dysplasia, Skeletal dysplasia, SPONDYLOEPIPHYSEAL DYSPLASIA
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.