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.
authors.affiliation: Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Agha S
authors.initials: AS
authors.lastname: Haider
authors.affiliation: Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Anuradha
authors.initials: A
authors.lastname: Ganesh
authors.affiliation: Genetics, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Adila
authors.initials: A
authors.lastname: Al-Kindi
authors.affiliation: Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Al-Hinai
authors.affiliation: Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Nadia
authors.initials: N
authors.lastname: Al-Kharousi
authors.affiliation: Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Saif
authors.initials: S
authors.lastname: Al-Yaroubi
authors.affiliation: Departments of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman.
authors.forename: Sana
authors.initials: S
authors.lastname: Al-Zuhaibi
keywords: Case Report; Corneal Opacity, congenital; Hypoparathyroidism; Nanophthalmos; Oman; Persistent Fetal Vasculature Syndrome; Sanjad-Sakati Syndrome; TBCE Protein, human
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