الملخص
Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43. We report unique ophthalmic findings in a two-year-old child with molecularly confirmed SSS, who was admitted to Sultan Qaboos University Hospital in Oman at 11 weeks old with bilateral congenital corneal clouding. The ophthalmic findings in this patient were linked to faulty microtubule assembly in the brain, abnormal intracellular membrane transport and the resulting metabolic derangement seen in patients with SSS.
بيانات النشر
- المعرّف الرقمي
- 10.18295/2075-0528.1607
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 14(3), 401-404
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Haider, A. S., Ganesh, A., Al-Hinai, A., Ahmad, Al-Kharousi, N., Al-Yaroubi, S., & Al-Zuhaibi, S. (2025). New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. Sultan Qaboos University Medical Journal, 14(3), 401-404. https://doi.org/10.18295/2075-0528.1607
MLA 9
Haider, Agha S., et al. "New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman." Sultan Qaboos University Medical Journal, vol. 14, no. 3, 2025, pp. 401-404. https://doi.org/10.18295/2075-0528.1607.
شيكاغو (المؤلف–التاريخ)
Haider, Agha S., Anuradha Ganesh, Adila Al-Hinai, Ahmad, Nadia Al-Kharousi, Saif Al-Yaroubi, and Sana Al-Zuhaibi. 2025. "New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman." Sultan Qaboos University Medical Journal 14 (3): 401-404. https://doi.org/10.18295/2075-0528.1607.
هارفارد
Haider, A. S., Ganesh, A., Al-Hinai, A., Ahmad, Al-Kharousi, N., Al-Yaroubi, S. and Al-Zuhaibi, S. (2025) 'New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman', Sultan Qaboos University Medical Journal, 14(3), pp. 401-404. doi:10.18295/2075-0528.1607.
فانكوفر
Haider AS, Ganesh A, Al-Hinai A, Ahmad, Al-Kharousi N, Al-Yaroubi S, et al. New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman. Sultan Qaboos University Medical Journal. 2025;14(3):401-404. doi:10.18295/2075-0528.1607
IEEE
A. S. Haider, A. Ganesh, A. Al-Hinai, Ahmad, N. Al-Kharousi, S. Al-Yaroubi, and S. Al-Zuhaibi, "New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman," Sultan Qaboos University Medical Journal, vol. 14, no. 3, pp. 401-404, 2025, doi: 10.18295/2075-0528.1607.