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Review
. 2016 Apr;7(1):12-8.
doi: 10.1159/000444729. Epub 2016 Mar 16.

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Débora Romeo Bertola  1 , Rachel S Honjo  1 , Wagner A R Baratela  1
Affiliations
Review

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Débora Romeo Bertola et al. Mol Syndromol. 2016 Apr.

Abstract

Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory factor receptor gene (LIFR) -, natural history and management possibilities. This review aims to highlight the clinical aspects, radiological features, molecular findings, and management strategies in Stüve-Wiedemann syndrome.

Keywords: Bent bones; LIFR; Schwartz-Jampel syndrome type 2; Skeletal dysplasia; Stüve-Wiedemann syndrome.

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Figures

Fig. 1
Fig. 1
Progression of the skeletal abnormalities in SWS in a 2-year period. A, B Progressive bowing of the long bones, with compromising of the femoral heads and fracture of the right fibula. Note the wide metaphyses, radiolucent lesions, and internal cortical thickening at the concavity of the bend of the long bones. C, D Progressive scoliosis.
See this image and copyright information in PMC

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