title: Ophthalmic features of hypoparathyroidism-retardation-dysmorphism.
abstract: Hypoparathyroidism-retardation-dysmorphism (HRD; Sanjad-Sakati Syndrome; Online Mendelian Inheritance in Man [OMIM] #241410) is a rare recessive syndrome predominantly seen on the Arabian Peninsula and characterized by congenital hypoparathyroidism, intrauterine growth retardation, mental retardation, seizures, and a typical facial dysmorphism (prominent forehead, deep-set eyes, and abnormal external ears).(1,2) To date, the same homozygous deletion in TBCE (155-166del) has been reported in all Saudi Arabian patients with HRD(1) as well as in all Saudi Arabian patients with Kenny-Caffey syndrome (OMIM #244460),(1) a syndrome with a phenotype that resembles that of HRD but is characterized by the presence of normal intelligence, late closure of the anterior fontanelle, macrocephaly, and postnatal (rather than prenatal) growth retardation.(1,3) Nanophthalmos and corneal opacity have been documented in Kenny-Caffey syndrome patients,(4) but ocular disease has not been well-described in HRD. We describe the ocular features of four Saudi Arabian HRD children referred to our institution for ocular complaints noted by their parents.
authors.affiliation: Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu <arif.khan@mssm.edu>
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
authors.forename: Abdullah
authors.initials: A
authors.lastname: Al-Assiri
authors.forename: Saleh
authors.initials: S
authors.lastname: Al-Mesfer
mesh_terms: D002675:Child, Preschool; D003318:Corneal Opacity / Q000175:diagnosis* / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation; D006801:Humans; D006961:Hyperparathyroidism / Q000151:congenital / Q000175:diagnosis*; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D007634:Keratitis / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis* / Q000235:genetics; D018832:Molecular Chaperones / Q000235:genetics; D012529:Saudi Arabia / Q000453:epidemiology; D013577:Syndrome
chemical_list: D018832:Molecular Chaperones; C469270:TBCE protein, human