alexa Abstract | Otolaryngologic Manifestations of Sanjad Sakati Syndrome- A Case Report

Otolaryngology Online Journal
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Case Report Open Access

Abstract

Sanjad-Sakati syndrome (SSS) or hypoparathyroidismretardation- dysmorphism (HRD) or Middle East syndrome is a rare autosomal recessive genetic manifestation seen predominently from the Middle East and Arabian Peninsula. Children affected with this condition are typically born with features of intrauterine growth retardation and present early with hypocalcaemic convulsions, typical facial dysmorphic features, severe growth retardation, developmental delay, low IQ and congenital hypoparathyroidism1,2. The condition is caused by mutations or deletions in the TBCE gene on Chromosome No.1 the locus is 230 kb region of gene with mutations in individuals who are affected3.There are exceptional cases who are not affected due to a TCBE gene abnormality4

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Author(s): Segana Hasan Abdul Cader Fahim Ahmed Shah and SKGReghunandanan Nair

Keywords

Hypoparathyroidism, Facial dysmorphism, Recurrent ear infections, Otolaryngologic

 
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