Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.

Content Provider	Europe PMC
Author	Romeo Bertola, Débora Honjo, Rachel S. Baratela, Wagner A.R.
Copyright Year	2016
Abstract	Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory factor receptor gene (LIFR) -, natural history and management possibilities. This review aims to highlight the clinical aspects, radiological features, molecular findings, and management strategies in Stüve-Wiedemann syndrome.
Related Links	https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC4862397&blobtype=pdf
Page Count	7
ISSN	16618769
Volume Number	7
DOI	10.1159/000444729
PubMed Central reference number	PMC4862397
Issue Number	1
PubMed reference number	27194968
Journal	Molecular Syndromology [Mol Syndromol]
e-ISSN	16618777
Language	English
Publisher	Karger Publishers
Publisher Date	2016-03-16
Publisher Place	Switzerland
Access Restriction	Open
Rights License	Copyright © 2016 by S. Karger AG, Basel
Subject Keyword	Bent bones LIFR Schwartz-Jampel syndrome type 2 Skeletal dysplasia Stüve-Wiedemann syndrome
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)