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

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.

SUBMITTER: Haider AS

PROVIDER: S-EPMC4117669 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature

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

Haider Agha S AS Ganesh Anuradha A Al-Kindi Adila A Al-Hinai Ahmad A Al-Kharousi Nadia N Al-Yaroubi Saif S Al-Zuhaibi Sana S

Sultan Qaboos University medical journal 20140724 3

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 admit ...[more]

PMID: 25097779

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