Skeletal Radiol 2022 Jul 1. Epub 2022 Jul 1.
Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Dokuz Eylul University, İnciraltı mahallesi Mithatpaşa street no: 56, Balçova, İzmir, 35330, Turkey.
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. Read More