Ontology highlight
ABSTRACT:
SUBMITTER: Kariminejad A
PROVIDER: S-EPMC4774121 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Kariminejad Ariana A Ghaderi-Sohi Siavash S Hossein-Nejad Nedai Hamid H Varasteh Vahid V Moslemi Ali-Reza AR Tajsharghi Homa H
BMC musculoskeletal disorders 20160301
<h4>Background</h4>Lethal multiple pterygium syndrome (LMPS, OMIM 253290), is a fatal disorder associated with anomalies of the skin, muscles and skeleton. It is characterised by prenatal growth failure with pterygium present in multiple areas and akinesia, leading to muscle weakness and severe arthrogryposis. Foetal hydrops with cystic hygroma develops in affected foetuses with LMPS. This study aimed to uncover the aetiology of LMPS in a family with two affected foetuses.<h4>Methods and results ...[more]