New ocular associations in Sanjad-Sakati syndrome: Case report from Oman

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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.

Original languageEnglish
JournalSultan Qaboos University Medical Journal
Volume14
Issue number3
Publication statusPublished - 2014

Fingerprint

Oman
Genetic Databases
Hypoparathyroidism
Intracellular Membranes
Tubulin
Microtubules
Chromosomes
Mutation
Brain
Growth
Genes
Hypoparathyroidism-retardation-dysmorphism syndrome
Sultan

Keywords

  • Case Report
  • Congenital
  • Corneal Opacity
  • Human
  • Hypoparathyroidism
  • Nanophthalmos
  • Oman
  • Persistent Fetal Vasculature Syndrome
  • Sanjad-Sakati Syndrome
  • TBCE Protein

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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title = "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.",
keywords = "Case Report, Congenital, Corneal Opacity, Human, Hypoparathyroidism, Nanophthalmos, Oman, Persistent Fetal Vasculature Syndrome, Sanjad-Sakati Syndrome, TBCE Protein",
author = "Haider, {Agha S.} and Anuradha Ganesh and Adila Al-Kindi and Ahmad Al-Hinai and Nadia Al-Kharousi and Saif Al-Yaroubi and Sana Al-Zuhaibi",
year = "2014",
language = "English",
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journal = "Sultan Qaboos University Medical Journal",
issn = "2075-051X",
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T2 - Case report from Oman

AU - Haider, Agha S.

AU - Ganesh, Anuradha

AU - Al-Kindi, Adila

AU - Al-Hinai, Ahmad

AU - Al-Kharousi, Nadia

AU - Al-Yaroubi, Saif

AU - Al-Zuhaibi, Sana

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - Case Report

KW - Congenital

KW - Corneal Opacity

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KW - Hypoparathyroidism

KW - Nanophthalmos

KW - Oman

KW - Persistent Fetal Vasculature Syndrome

KW - Sanjad-Sakati Syndrome

KW - TBCE Protein

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