Details

Autor(en) / Beteiligte

• Romeo Bertola, Débora
• Honjo, Rachel S.
• Baratela, Wagner A.R.

Titel

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Ist Teil von

• Molecular syndromology, 2016-04, Vol.7 (1), p.12-18

Ort / Verlag

Basel, Switzerland: S. Karger AG

Erscheinungsjahr

2016

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.