Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.

Détails

ID Serval
serval:BIB_2B7FF34737C7
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Périodique
Clinical Genetics
Auteur(s)
Jung C., Dagoneau N., Baujat G., Le Merrer M., David A., Di Rocco M., Hamel B., Mégarbané A., Superti-Furga A., Unger S., Munnich A., Cormier-Daire V.
ISSN
1399-0004 (Electronic)
ISSN-L
0009-9163
Statut éditorial
Publié
Date de publication
2010
Volume
77
Numéro
3
Pages
266-272
Langue
anglais
Résumé
Stüve-Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition caused by mutations in the leukemia inhibitory receptor (LIFR) gene. The main characteristic features are bowing of the long bones, neonatal respiratory distress, swallowing/sucking difficulties and dysautonomia symptoms including temperature instability often leading to death in the first years of life. We report here four patients with SWS who have survived beyond 36 months of age with no LIFR mutation. These patients have been compared with six unreported SWS survivors carrying null LIFR mutations. We provide evidence of clinical homogeneity of the syndrome in spite of the genetic heterogeneity.
Mots-clé
Abnormalities, Multiple/genetics, Abnormalities, Multiple/physiopathology, Female, Follow-Up Studies, Genes, Recessive, Genetic Heterogeneity, Humans, Leukemia Inhibitory Factor Receptor alpha Subunit/genetics, Male, Osteochondrodysplasias/genetics, Osteochondrodysplasias/physiopathology, Syndrome
Pubmed
Web of science
Création de la notice
14/03/2011 17:09
Dernière modification de la notice
03/03/2018 15:25
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