New Ocular Associations in Sanjad-Sakati Syndrome Case report from Oman
Journal Title: Sultan Qaboos University Medical Journal - Year 2014, Vol 14, Issue 3
Abstract
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-specifc chaperone E (TBCE) gene on chromosome 1q42-43. We report unique ophthalmic fndings in a two-year-old child with molecularly confrmed SSS, who was admitted to Sultan Qaboos University Hospital in Oman at 11 weeks old with bilateral congenital corneal clouding. Te ophthalmic fndings 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.
Authors and Affiliations
Agha S. Haider| Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman, Anuradha Ganesh| Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman, Adila Al-Kindi| Departments of Genetics, Sultan Qaboos University Hospital, Muscat, Oman, Ahmad Al-Hinai| Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman, Nadia Al-Kharousi| Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman, Saif Al-Yaroubi| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Sana Al-Zuhaibi| Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman
Keywords
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- EP ID EP14484
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