Metatropic dwarfism is a rare form of bone dysplasia which is manifest already at birth. One feature is an early manifestation of progressive kyphoscoliosis, causing a reversal of body proportions. The radiological changes permit classification by establishing the presence of anisospondylia, a "halberd shaped" pelvis and epimetaphyseal ossification disorders. Inheritance is probably autosomal-recessive or dominant.
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Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
Novel mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation.
Genes Dis
May 2024
Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong 510623, China.
Article Synopsis
- The skeletal dysplasias are a diverse group of genetic conditions impacting bone and cartilage growth, but the role of cytokines in these disorders is not well understood.
- A study analyzed cytokine levels in 136 children with skeletal dysplasia compared to 275 healthy controls, focusing on 12 specific cytokines across various dysplasia types.
- Findings revealed significant differences in cytokine expression, with certain cytokines consistently elevated or decreased across all dysplasia cohorts, highlighting particularly high levels in MOPDII cases.
TRPV4-mediated Ca deregulation causes mitochondrial dysfunction via the AKT/α-synuclein pathway in dopaminergic neurons.
FASEB Bioadv
December 2023
Section of Oral Medicine for Children, Division of Oral Health, Growth and Development, Faculty of Dental Science Kyushu University Fukuoka Japan.
Mutations in the gene encoding the transient receptor potential vanilloid member 4 (TRPV4), a Ca permeable nonselective cation channel, cause TRPV4-related disorders. TRPV4 is widely expressed in the brain; however, the pathogenesis underlying TRPV4-mediated Ca deregulation in neurodevelopment remains unresolved and an effective therapeutic strategy remains to be established. These issues were addressed by isolating mutant dental pulp stem cells from a tooth donated by a child diagnosed with metatropic dysplasia with neurodevelopmental comorbidities caused by a gain-of-function TRPV4 mutation, c.
View Article and Find Full Text PDFNovel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report.
Malays Orthop J
July 2022
Department of Paediatric Orthopaedics, Christian Medical College, Vellore, India.
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.
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