title: Stuve-Wiedemann syndrome: is it underrecognized?
abstract: Stuve-Wiedemann Syndrome (SWS) (OMIM #601559) is an autosomal recessive disorder characterized by skeletal changes, bowing of the lower limb, severe osteoporosis and joint contractures, episodic hyperthermia, frequent respiratory infections, feeding problems and high mortality in early life. It is caused by mutation in the leukemia inhibitory factor receptor gene (LIFR; 151443) on chromosome 5p13. We provide the clinical follow-up and molecular aspects of six new patients who carried the same novel mutation in the LIFR gene (p.Arg692X) and three patients carried a common haplotype at the LIFR locus supporting a founder effect in the Turkish population. The probable pathogenesis of the features is also discussed. Osseous findings in the presence of other above-mentioned morbid conditions should raise the suspicion of SWS in neonates especially in Arabic and Eastern Mediterranean countries with high rate of consanguineous marriages like in Turkey. Severe osteoporosis, bone deformities, milias, leukocoria, inflammatory lesions on distal extremities, tongue biting behavior and oral ulcers could be more prominent features of the survivors beyond the neonatal period while respiratory and feeding problems are remitting. It is of crucial importance to diagnose such babies earlier in order to prevent extensive laboratory workup and to provide proper genetic counseling.
authors.affiliation: Department of Medical Genetics, Bezmialem Vakif University of Medicine, Istanbul, Turkey.
authors.forename: Gözde
authors.initials: G
authors.lastname: Yeşil
authors.forename: Anne Sophie
authors.initials: AS
authors.lastname: Lebre
authors.forename: Sofia Dos
authors.initials: SD
authors.lastname: Santos
authors.forename: Omer
authors.initials: O
authors.lastname: Güran
authors.forename: Ilke Ipek
authors.initials: II
authors.lastname: Özahi
authors.forename: Valeria Cormier
authors.initials: VC
authors.lastname: Daire
authors.forename: Tülay
authors.initials: T
authors.lastname: Güran
mesh_terms: D002648:Child; D002675:Child, Preschool; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D017809:Fatal Outcome; D056426:Genetic Loci; D005838:Genotype; D006801:Humans; D007223:Infant; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D010641:Phenotype; D011859:Radiography
chemical_list: C507840:LIFR protein, human; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit
keywords: LIFR; Stuve-Wiedemann syndrome; founder effect