Otolaryngologic Manifestations of Sanjad Sakati Syndrome- A Case Report
作者: Segana Hasan Abdul Cader Fahim Ahmed Shah S.K.G.Reghunanan Nair
刊名: An International Journal of Medical Sciences, 2018, Vol.6 (3)
来源数据库: Otolaryngology online
原始语种摘要: 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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  • retardation 减速
  • dysmorphism 同质异晶
  • congenital 先天的
  • Middle 中级牌黄麻
  • abnormality 反常
  • intrauterine 子宫内的
  • convulsions 惊厥
  • manifestation 特枕示
  • affected 受了影响的
  • recessive 隐性