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Article

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

American journal of medical genetics. Part A - 1 Nov 2011

Unger Sheila, Lausch Ekkehart, Stanzial Franco, Gillessen-Kaesbach Gabriele, Stefanova Irina, Di Stefano Cristina Maria, Bertini Enrico, Dionisi-Vici Carlo, Nilius Bernd, Zabel Bernhard, Superti-Furga Andrea

Abstract excerpt

Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital...

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Share to Fetal Growth Retardation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Limb Deformities, Congenital

Share to Muscular Atrophy, Spinal

Share to Osteochondrodysplasias

Share to Pregnancy Trimester, Second

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Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 21964829
DOI: 10.1002/ajmg.a.34268

Genes

TRPV4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?PMID 21964829Read ↗

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Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.Semantic proximity Read ↗

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Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.Semantic proximity Read ↗

The evolving genetic landscape of neuromuscular fetal akinesiasSemantic proximity Read ↗

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype.Semantic proximity Read ↗

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Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.Semantic proximity Read ↗

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Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)—Aetiology, diagnosis, and managementSemantic proximity Read ↗

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasiasSemantic proximity Read ↗

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