title: Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
abstract: 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.
authors.affiliation: Department of Genetics, Université Paris Descartes, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Jung
authors.forename: N
authors.initials: N
authors.lastname: Dagoneau
authors.forename: G
authors.initials: G
authors.lastname: Baujat
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: B
authors.initials: B
authors.lastname: Hamel
authors.forename: A
authors.initials: A
authors.lastname: Mégarbané
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: S
authors.initials: S
authors.lastname: Unger
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006801:Humans; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome
chemical_list: C507840:LIFR protein, human; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit