One in three: Congenital bent bone disease and intermittent hyperthermia in three siblings with Stuve-Wiedemann syndrome

Roshan Koul*, Adila Al-Kindy, Renjith Mani, Dilip Sankhla, Amna Al-Futaisi

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

4 اقتباسات (Scopus)

ملخص

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 siblings from a consanguineous marriage presented with similar clinical features over 16 years. STWS was established with their last child at the beginning of 2012. All the children exhibited the onset of STWS in the neonatal period with fever and generalised hypotonia. Examinations of all the infants revealed camptodactyly, micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the second affected child had myotonia, demonstrated by electromyography. Unusual pyrexia as a presenting feature in this syndrome needs early recognition so that extensive and elaborate investigations can be avoided. The disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene.

اللغة الأصليةEnglish
الصفحات (من إلى)301-305
عدد الصفحات5
دوريةSultan Qaboos University Medical Journal
مستوى الصوت13
رقم الإصدار2
المعرِّفات الرقمية للأشياء
حالة النشرPublished - مايو 2013

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