Ceren Yılmaz Uzman1, Tufan Çankaya2, Handan Güleryüz3, Ayfer Ülgenalp4,2, Özlem Giray Bozkaya4. 1. Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Dokuz Eylul University, İnciraltı mahallesi Mithatpaşa street no: 56, Balçova, İzmir, 35330, Turkey. c.erenyilmaz@hotmail.com. 2. Faculty of Medicine, Department of Medical Genetics, Dokuz Eylul University, İzmir, Turkey. 3. Faculty of Medicine, Department of Radiology, Division of Pediatric Radiology, Dokuz Eylul University School of Medicine, Dokuz Eylul University, Izmir, Turkey. 4. Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Dokuz Eylul University, İnciraltı mahallesi Mithatpaşa street no: 56, Balçova, İzmir, 35330, Turkey.
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. 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.
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.
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