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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


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
Pages (from-to)e401-e404
JournalSultan Qaboos University Medical Journal
Issue number3
Publication statusPublished - Aug 2014


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

ASJC Scopus subject areas

  • Medicine(all)


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