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Current Issue - July 2022, Volume 16, Issue No. 2

Official Journal of Malaysian Orthopaedic Association and ASEAN Orthopaedic Association

Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report


We report an eight-year-old girl with a novel homozygous TRPV4 gene pathogenic variant c.2355G>T p. (Trp785Cys) with mesomelic shortening, odontoid hypoplasia, multiple joint contractures, thoracolumbar kyphosis, pectus carinatum, halberd pelvis, and dumb-bell shaped long bones. The novel variant caused a severe recessive form of metatropic dysplasia.

Abstract   |   Reference

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The Malaysian Orthopaedic Journal is a peer-reviewed journal that is published three times a year in both print and electronic online version. The purpose of this journal is to publish original research studies, evaluation of current practices and case reports in various subspecialties of orthopaedics and traumatology, as well as associated fields like basic science, biomedical engineering, rehabilitation medicine and nursing.

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