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Article

Orthopedics management of acromicric dysplasia: follow up of nine patients.

American journal of medical genetics. Part A - 1 Feb 2014

Klein Céline, Le Goff Carine, Topouchian Vicken, Odent Sylvie, Violas Philippe, Glorion Christophe, Cormier-Daire Valérie

Abstract excerpt

UNLABELLED: Acromicric dysplasia (AD) is an autosomal dominant disorder characterized by short stature, short extremities, stiff joint and skeleton features including brachymetacarpia, cone-shaped epiphyses, internal notch of the femoral head, and delayed bone age. Recently, we identified fibrillin 1 (FBN1) as the disease gene of AD. The aim of our study was to further describe the long-term follow up of AD...

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Source

Identifiers

PMID: 24339047
DOI: 10.1002/ajmg.a.36139

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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