HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

ABSTRACT:

Background

Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14-p15. For these reasons, the diagnosis of HDR syndrome is challenging and requires a high index of suspicion as well as genetic analysis.

Case presentation

A 14-month-old boy, with sensorineural hearing loss in both ears, showed typical radiological features of X-linked stapes gusher on preoperative temporal bone computed tomography (CT) for cochlear implantations. Then after his discharge from hospital, he suffered a hypocalcemic seizure and we discovered a renal cyst during investigation of hypocalcemia. He was finally diagn

SUBMITTER: Yang A 

PROVIDER: S-EPMC5659003 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature