The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review.

ABSTRACT: Metatropic dysplasia is an autosomal dominant skeletal disorder characterized by progressive kyphoscoliosis, severe platyspondyly, pronounced metaphyseal enlargement, and shortening of the long bones. This condition is caused by pathogenic variants in the TRPV4 (Transient Receptor Potential Vanilloid 4) gene, which encodes a non-selective calcium channel involved in bone homeostasis. Variants in TRPV4 have been associated with two major disease groups: skeletal dysplasias and neuropathies, with recent findings indicating an overlap in their clinical features. We report three patients with metatropic dysplasia, each presenting a distinct severity profile. All exhibited a bell-shaped thorax, significant platyspondyly, and shortened long bones with broad metaphyses. Notably, pat

SUBMITTER: Robles-Espinoza K 

PROVIDER: S-EPMC12524330 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature