Title of article
New Ocular Associations in Sanjad-Sakati Syndrome
Author/Authors
Haider, Agha S. Sultan Qaboos University Hospital - Departments of Ophthalmology, Oman , Ganesh, Anuradha Sultan Qaboos University Hopsital - Departments of Ophthalmology, Oman , Al-Kindi, Adila Sultan Qaboos University Hospital - Departments of Genetics, Oman , Al-Hinai, Ahmad Sultan Qaboos University Hospital - Departments of Ophthalmology, Oman , Al-Kharousi, Nadia Sultan Qaboos University Hospital - Departments of Ophthalmology, Oman , Al-Yaroubi, Saif Sultan Qaboos University Hospital - Departments of Child Health, Oman , Al-Zuhaibi, Sana Sultan Qaboos University Hospital - Departments of Ophthalmology, Oman
From page
401
To page
404
Abstract
Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also knownas 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.
Keywords
Sanjad , Sakati Syndrome , TBCE Protein, human , Corneal Opacity, congenital , Persistent Fetal Vasculature Syndrome , Nanophthalmos , Hypoparathyroidism , Case Report , Oman
Journal title
Sultan Qaboos University Medical Journal (SQUMJ)
Journal title
Sultan Qaboos University Medical Journal (SQUMJ)
Record number
2690881
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