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Article

A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.

European journal of medical genetics - 1 Apr 2018

Cheng S W, Luk Ho-Ming, Chu YoYo W Y, Tung Yuet-Ling, Kwan Elanie Yin-Wah, Lo Ivan Fai-Man, Chung Brian Hon-Yin

Abstract excerpt

Acromelic dysplasia is a heterogeneous group of rare skeletal dysplasias characterized by distal limb shortening. Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities within this group of disorders and are characterized by short stature, short hands, stiff joints, skin thickening, facial anomalies, normal intelligence and skeletal...

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Source

Identifiers

PMID: 29191498
DOI: 10.1016/j.ejmg.2017.11.018

Genes

FBN1
ADAMTSL2

Variants

Provenance

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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