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Article

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.

American journal of medical genetics. Part A - 1 May 2020

Ayoub Sandy, Ghali Neeti, Angwin Chloe, Baker Duncan, Baffini Stella, Brady Angela F, Giovannucci Uzielli Maria Luisa, Giunta Cecilia, Johnson Diana S, Kosho Tomoki, Neas Katherine, Pope F Michael, Rutsch Frank, Scarselli Gloria, Sobey Glenda, Vandersteen Anthony, van Dijk Fleur S

Abstract excerpt

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a rare autosomal dominant connective tissue disorder that is characterized by congenital bilateral hip dislocations, severe generalized joint hypermobility, recurrent joint (sub)luxations, and skin hyperextensibility. To date, 42 patients with aEDS have been published. We report 12 patients with aEDS from 10 families with 6 unpublished individuals and follow-up data...

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Identifiers

PMID: 32091183
DOI: 10.1002/ajmg.a.61523

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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