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: Gözde Yeşil, Anne Sophie Lebre, Sofia Dos Santos, Omer Güran, Ilke Ipek Özahi, Valeria Cormier Daire, Tülay Güran
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 164A Issue 9 Pg. 2200-5 (Sep 2014) ISSN: 1552-4833 [Electronic] United States
• PMID: 24988918 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2014 Wiley Periodicals, Inc.

Chemical References

• LIFR protein, human
• Leukemia Inhibitory Factor Receptor alpha Subunit

Topics

• Child
• Child, Preschool
• Exostoses, Multiple Hereditary (diagnosis, diagnostic imaging, genetics)
• Fatal Outcome
• Genetic Loci
• Genotype
• Humans
• Infant
• Leukemia Inhibitory Factor Receptor alpha Subunit (genetics)
• Mutation (genetics)
• Osteochondrodysplasias (diagnosis, diagnostic imaging, genetics)
• Phenotype
• Radiography