الملخص
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.
بيانات النشر
- المعرّف الرقمي
- 10.18295/2075-0528.1471
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 13(2), 301-305
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Koul, R., Al-Kindy, A., Sankhla, R., Dilip, & Al-Futaisi, A. (2025). One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome. Sultan Qaboos University Medical Journal, 13(2), 301-305. https://doi.org/10.18295/2075-0528.1471
MLA 9
Koul, Roshan, et al. "One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome." Sultan Qaboos University Medical Journal, vol. 13, no. 2, 2025, pp. 301-305. https://doi.org/10.18295/2075-0528.1471.
شيكاغو (المؤلف–التاريخ)
Koul, Roshan, Adila Al-Kindy, Renjith Sankhla, Dilip, and Amna Al-Futaisi. 2025. "One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome." Sultan Qaboos University Medical Journal 13 (2): 301-305. https://doi.org/10.18295/2075-0528.1471.
هارفارد
Koul, R., Al-Kindy, A., Sankhla, R., Dilip and Al-Futaisi, A. (2025) 'One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome', Sultan Qaboos University Medical Journal, 13(2), pp. 301-305. doi:10.18295/2075-0528.1471.
فانكوفر
Koul R, Al-Kindy A, Sankhla R, Dilip, Al-Futaisi A. One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome. Sultan Qaboos University Medical Journal. 2025;13(2):301-305. doi:10.18295/2075-0528.1471
IEEE
R. Koul, A. Al-Kindy, R. Sankhla, Dilip, and A. Al-Futaisi, "One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome," Sultan Qaboos University Medical Journal, vol. 13, no. 2, pp. 301-305, 2025, doi: 10.18295/2075-0528.1471.