Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

doi:10.1016/j.nmd.2017.01.013

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Article

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

Neuromuscular disorders : NMD - 1 Jun 2017

Abdalla Ebtesam, Ravenscroft Gianina, Zayed Louay, Beecroft Sarah J, Laing Nigel G

Abstract excerpt

Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, hydrops fetalis, pulmonary hypoplasia, occasional arthrogryposis, and pterygia. The pathogenetic mechanisms of fetal akinesia deformation sequence include neuropathy, muscular...

Topics

Abnormalities, Multiple
Aborted Fetus
Female
Gestational Age
Homozygote
Humans
Malignant Hyperthermia
Muscle Proteins
Mutation
Phenotype
Pregnancy
Pregnancy Complications
Skin Abnormalities

Source

Open in PubMed

Identifiers

PMID: 28336317
DOI: 10.1016/j.nmd.2017.01.013

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