Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

[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.

[学科分类] 基础医学

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