Pauline Marzin, Sophie Rondeau, Jean-Luc Alessandri, Klaus Dieterich, Carine le Goff, Clémentine Mahaut, Sandra Mercier, Caroline Michot, Oana Moldovan, Gianmaria Miolo, Massimiliano Rossi, Julien Van-Gils, Christine Francannet, Matthieu Robert, Jean-Philippe Jaïs, Céline Huber, Valerie Cormier-Daire
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 responsible for a recessive form of WMS. OBJECTIVE: Natural history description of WMS and genotype-phenotype correlation establishment...
September 21, 2023: Journal of Medical Genetics