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

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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.

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Authors and Affiliations

  1. Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Dokuz Eylul University, İnciraltı mahallesi Mithatpaşa street no: 56, Balçova, İzmir, 35330, Turkey

    Ceren Yılmaz Uzman, Ayfer Ülgenalp & Özlem Giray Bozkaya

  2. Faculty of Medicine, Department of Medical Genetics, Dokuz Eylul University, İzmir, Turkey

    Tufan Çankaya & Ayfer Ülgenalp

  3. Faculty of Medicine, Department of Radiology, Division of Pediatric Radiology, Dokuz Eylul University School of Medicine, Dokuz Eylul University, Izmir, Turkey

    Handan Güleryüz

Authors
  1. Ceren Yılmaz Uzman
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  2. Tufan Çankaya
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  3. Handan Güleryüz
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  4. Ayfer Ülgenalp
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  5. Özlem Giray Bozkaya
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Corresponding author

Correspondence to Ceren Yılmaz Uzman.

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Written informed consent was obtained from the parents, and investigations were conducted in line with the principles detailed by the Declaration of Helsinki.

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The authors declare no competing interests.

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What is new?

This is the first case of a SMED patient who presented with cardiac mass.

Arachnoid and pineal cysts that have existed since the prenatal period, and it is the first case described in the literature.

Decreased lumbar vertebral interpedicular distance were not detected in previous SEMD patients.

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Uzman, C.Y., Çankaya, T., Güleryüz, H. et al. Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report. Skeletal Radiol 52, 115–118 (2023). https://doi.org/10.1007/s00256-022-04105-6

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  • DOI: https://doi.org/10.1007/s00256-022-04105-6

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