Anterior lenticonus is a rare condition in which there is a conical forward protrusion of the axial portion of the anterior capsule of the lens and anterior cortex which usually remains clear. The nucleus is not involved, indicating that the anomaly develops relatively late. Males are more commonly affected than females and in most cases both eyes are involved. Some of the cases reported in the...

The Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterized by congenital deafness and cardiac phenotype (QT prolongation, ventricular arrhythmias, and sudden death). JLNS has been shown to occur due to homozygous mutation in KCNQ1 or KCNE1. There have been a few clinical case reports on JLNS in Korea; however, these were not confirmed by a genetic study. We i...

Introduction: Hereditary Gingival Enlargement (HGF), a rare entity, is also known as familial elephantiasis, elephantiasis gingivae, diffuse fibromatosis. It benign, non-haemorrhagic fibrous enlargement of gingival tissue. frequently component feature many syndromes. Jones syndrome one such syndrome, characterized by overgrowth and progressive deafness.
 Case report: A 27-year-old male pat...

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare type of motor neuron disease, characterized by bilateral deafness, and multiple cranial nerve involvement. The disease is more frequent in females, but rapid deterioration was attributed to male gender or early onset. Herein, we report a man with BVVLS who had a longer than expected interval between onset of deafness and other motor symptoms t...

BACKGROUND The pediatric quality of life (QoL) questionnaire, the child-rated Kid-KINDL, has wording effects. However, no studies have examined for its parallel questionnaire, the parent-proxy Kid-KINDL. This study aimed to examine the psychometric properties and wording effects of the parent-proxy Kid-KINDL. METHODS Parents with 8- to 12-year-old children (n = 247) completed the parent-proxy...

Key words Disease name and synonyms Definition/diagnostic criteria Epidemiology Clinical description Etiology Diagnostic methods Differential diagnosis Genetic counseling Antenatal diagnosis Management including treatment Prognosis Unresolved questions References Abstract The syndrome of Hypoparathyroidism, sensorineural deafness and renal disease (HDR syndrome) is an inherited condition. Patie...

Association of 3-methylglutaconic aciduria with impaired oxidative phosphorylation, deafness, encephalopathy, leigh-like lesions on brain imaging, progressive spasticity and dystonia defined as a distinct entity under the name of MEGDEL syndrome. It is an autosomal recessive disorder due to mutation in the serine active site-containing protein 1 (SERAC1). SERAC1 is localized at the interface be...

Sudden sensorineural hearing loss (SSNHL) is usually unilateral and can be associated with tinnitus and vertigo. The most common causes of this disease are known to be the vascular and viral agents, but immune disorders are involved in the development of sudden deafness. The antiphospholipid syndrome (APS) is an acquired autoimmune system disorder, which is defined as the presence of antiphosph...

BACKGROUND The association between deafness and ocular problems is well established; however the nature and prevalence of these problems are diverse across the globe. OBJECTIVE The aim of this study is to determine the nature and prevalence of ophthalmologic abnormalities in deaf students and offer treatment to those with remediable conditions. METHOD Six hundred and twenty deaf students ag...

Objectives: LEOPARD syndrome is a rare congenital disease that can manifest with cardiac anomalies, multiple lentigines, ocular hypertelorism, growth retardation, and deafness. The purpose of this case series was to review the most prominent comorbidities associated with LEOPARD syndrome, and describe perioperative outcomes in a series of patients undergoing anesthesia. Design: Retrospective ca...