Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome.
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.
Ranjbar-Omrani
Gholamhossein
G
Endocrinology and Metabolism Research Center, Nemazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran. dabbaghm@sums.ac.ir
Zamiri
Nima
N
Sabayan
Behnam
B
Mohammadzadeh
Azam
A
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
D010758:Phosphorus; D002118:Calcium