Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome

Arch Iran Med. 2008 May;11(3):337-40.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Calcium / blood
  • Electrocardiography
  • Epilepsy, Tonic-Clonic / etiology
  • Female
  • Hearing Loss, Sensorineural / congenital*
  • Humans
  • Hypertension / etiology
  • Hypoparathyroidism / congenital*
  • Kidney / abnormalities*
  • Liver Function Tests
  • Menstruation Disturbances / etiology
  • Paresthesia / etiology
  • Phosphorus / blood
  • Reflex, Abnormal
  • Syndrome
  • Young Adult

Substances

  • Phosphorus
  • Calcium