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Stuve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.

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.

SUBMITTER: Romeo Bertola D 

PROVIDER: S-EPMC4862397 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.

Romeo Bertola Débora D   Honjo Rachel S RS   Baratela Wagner A R WA  

Molecular syndromology 20160316 1

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  ...[more]

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