title: Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome.
abstract: Barakat syndrome, also known as hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an extremely rare congenital disorder. Different etiologies are described for the syndrome but the definite pathophysiology remains unclear. Hereby, we present a case of Barakat syndrome who was diagnosed on the basis of clinical and molecular data.
authors.affiliation: Endocrinology and Metabolism Research Center, Nemazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran. dabbaghm@sums.ac.ir
authors.forename: Gholamhossein
authors.initials: G
authors.lastname: Ranjbar-Omrani
authors.forename: Nima
authors.initials: N
authors.lastname: Zamiri
authors.forename: Behnam
authors.initials: B
authors.lastname: Sabayan
authors.forename: Azam
authors.initials: A
authors.lastname: Mohammadzadeh
mesh_terms: D000328:Adult; D002118:Calcium / Q000097:blood; D004562:Electrocardiography; D004830:Epilepsy, Tonic-Clonic / Q000209:etiology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000151:congenital*; D006801:Humans; D006973:Hypertension / Q000209:etiology; D007011:Hypoparathyroidism / Q000151:congenital*; D007668:Kidney / Q000002:abnormalities*; D008111:Liver Function Tests; D008599:Menstruation Disturbances / Q000209:etiology; D010292:Paresthesia / Q000209:etiology; D010758:Phosphorus / Q000097:blood; D012021:Reflex, Abnormal; D013577:Syndrome; D055815:Young Adult
chemical_list: D010758:Phosphorus; D002118:Calcium