One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome

Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three siblin...

詳細記述

保存先:
書誌詳細
主要な著者: Koul, Roshan, Al-Kindy, Adila, Mani, Renjith, Sankhla, Dilip, Al-Futaisi, Amna
フォーマット: Artigo
言語:Inglês
出版事項: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2013
主題:
Case Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3706122/
https://ncbi.nlm.nih.gov/pubmed/23862038
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