Reversible splenial lesion syndrome in sisters with sensorineural deafness as the first manifestation [PDF]
Reversible splenial lesion syndrome (RESLES) is a rare clinico-radiological disorder syndrome with unclear pathophysiology. Here, two sisters with sensorineural deafness as the chief complaint diagnosed with RESLES was reported.
Jinbo Yang +5 more
doaj +2 more sources
Bilateral Sensorineural Deafness in a Young Pregnant Female Presenting with a Fever: A Rare Complication of a Reemerging Disease—Spotted Fever Group Rickettsioses [PDF]
Background. Rickettsial illnesses are a group of arthropod-borne remerging diseases. They are subdivided into three groups as typhus, spotted fever, and scrub typhus group.
A. G. T. A. Kariyawasam +5 more
doaj +2 more sources
Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp [PDF]
HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene.
Luke Vroegindewey +2 more
doaj +2 more sources
Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with mutations: A case report [PDF]
Background: Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous,
Antigone Papavasiliou +3 more
doaj +2 more sources
Sudden Sensorineural Deafness [PDF]
A. W. Morrison
+8 more sources
Etiology of Sensorineural Deafness
Children with a bilateral sensorineural hearing impairment averaging 30 dBHL or or more were investigated for possible congenital or intrauterine infection as causes at the Centre for Audiology, Manchester University, UK.
J Gordon Millichap
doaj +3 more sources
Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report [PDF]
BackgroundRetinitis pigmentosa and sensorineural deafness are two distinct clinical entities that can be caused by a variety of genetic mutations. The DHX16 gene, which encodes a protein involved in RNA processing, has been implicated in several genetic ...
Lei Wang +7 more
doaj +2 more sources
Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome [PDF]
Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15.
Nasrollah Maleki +3 more
doaj +3 more sources
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia. [PDF]
Gandolfi A, Ratnasamy K, Minutti C.
europepmc +3 more sources
Decline in prevalence of congenital sensorineural deafness in Dalmatian dogs in the United Kingdom. [PDF]
Lewis T, Freeman J, De Risio L.
europepmc +3 more sources

