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Article

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.

Journal of medical genetics - 19 Jan 2024

Marzin Pauline, Rondeau Sophie, Alessandri Jean-Luc, Dieterich Klaus, le Goff Carine, Mahaut Clémentine, Mercier Sandra, Michot Caroline, Moldovan Oana, Miolo Gianmaria, Rossi Massimiliano, Van-Gils Julien, Francannet Christine, Robert Matthieu P, Jaïs Jean-Philippe, Huber Céline, Cormier-Daire Valerie

Abstract excerpt

BACKGROUND: Weill-Marchesani syndrome (WMS) belongs to the group of acromelic dysplasias, defined by short stature, brachydactyly and joint limitations. WMS is characterised by specific ophthalmological abnormalities, although cardiovascular defects have also been reported. Monoallelic variations in FBN1 are associated with a dominant form of WMS, while biallelic variations in ADAMTS10, ADAMTS17 and LTBP2 are...

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PMID: 37734846
DOI: 10.1136/jmg-2023-109288

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