Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Molecular Syndromology

Wagner A.R. Baratela¹  Rachel S. Honjo¹  Débora Romeo Bertola¹ 

[1] Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

关键词: Bent bones;    LIFR;    Schwartz-Jampel syndrome type 2;    Skeletal dysplasia;    Stüve-Wiedemann syndrome;   

DOI  :  10.1159/000444729

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown