New Ocular Associations in Sanjad-Sakati Syndrome : Case report from Oman

Agha S. Haider, Anuradha Ganesh, Adila Al-Kindi, Ahmad Al-Hinai, Nadia Al-Kharousi, Saif Al-Yaroubi, Sana Al-Zuhaibi

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-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.

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Sultan Qaboos University Medical Journal, College of Medicine and Health Sciences, Sultan Qaboos University, PO Box 35, Postal Code 123, Al-Khod, Muscat, Oman

ISSN (Print edition): 2075-051X ISSN (Internet edition): 2075-0528

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