{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T16:00:48Z","timestamp":1792425648263,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,7,2]],"date-time":"2014-07-02T00:00:00Z","timestamp":1404259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Stuve\u2013Wiedemann 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\u2010up and molecular aspects of six new patients who carried the same novel mutation in the <jats:italic>LIFR<\/jats:italic> 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\u2010mentioned 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. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36626","type":"journal-article","created":{"date-parts":[[2014,7,2]],"date-time":"2014-07-02T18:57:16Z","timestamp":1404327436000},"page":"2200-2205","source":"Crossref","is-referenced-by-count":17,"title":["Stuve\u2013Wiedemann syndrome: Is it underrecognized?"],"prefix":"10.1002","volume":"164","author":[{"given":"G\u00f6zde","family":"Ye\u015fil","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Bezmialem Vakif University of Medicine Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Sophie","family":"Lebre","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Descartes; Sorbonne Paris Cit\u00e9 Insititut Imagine Paris France"},{"name":"Assistance Publique\u2010H\u00f4pitaux de Paris: Service de G\u00e9n\u00e9tique H\u00f4pital Necker\u2010Enfants Malades 149, rue de S\u00e8vres 75743 PARIS C 15 France"},{"name":"INSERM U781 H\u00f4pital Necker\u2010Enfants Malades 75015 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia Dos","family":"Santos","sequence":"additional","affiliation":[{"name":"Assistance Publique\u2010H\u00f4pitaux de Paris: Service de G\u00e9n\u00e9tique H\u00f4pital Necker\u2010Enfants Malades 149, rue de S\u00e8vres 75743 PARIS C 15 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d6mer","family":"G\u00fcran","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Marmara University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilke Ipek","family":"\u00d6zahi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Marmara University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria Cormier","family":"Daire","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Descartes; 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