Although the occurrence of nerve deafness in congenital syphilis ranks only second to interstitial keratitis as the most frequently observed manifestation, it is only rarely encountered in the acquired form of the disease. In acquired syphilis deafness may develop either early or late in the disease. According to Moore (1947), when it occurs early it always forms a part of the syndrome of acute...

Norrie disease is an X-linked recessive syndrome of blindness, deafness, and mental retardation. A knock-out mouse model with an Ndp gene disruption was studied. We examined the hearing phenotype, including audiological, histological, and vascular evaluations. As is seen in humans, the mice had progressive hearing loss leading to profound deafness. The primary lesion was localized to the stria ...

A 6-year-old girl is described who has congenital megaloblastic anemia which completely responded only to pharmacologic doses of thiamine. Relapse was observed twice when the drug was discontinued. The reintroduction of thiamine caused a prompt reticulocytosis and a rise in hemoglobin concentration. Other abnormalities included latent diabetes mellitus, sensorineural deafness, and "situs invers...

Pendred syndrome is the association between congenital sensorineural deafness and goitre. The disorder is characterised by the incomplete discharge of radioiodide from a primed thyroid following perchlorate challenge. However, the molecular basis of the association between hearing loss and a defect in organification of iodide remains unclear. Pendred syndrome is inherited as an autosomal recess...

Waardenburg syndrome was first reported by van der Hoeve in 1916. In 1951, Waardenburg defined 6 main features: (1) dystopia canthorum, (2) prominent broad nasal root, (3) synophrys, (4) white forelock, (5) heterochromia iridis, and (6) congenital deaf-mutism. Four types of Waardenburg syndrome have now been delineated on the basis of clinical and genetic criteria. The molecular defective gene ...

Myosins play essential roles in the development and function of auditory organs and multiple myosin genes are associated with hereditary forms of deafness. Using a forward genetic screen in Drosophila, we identified an E3 ligase, Ubr3, as an essential gene for auditory organ development. Ubr3 negatively regulates the mono-ubiquitination of non-muscle Myosin II, a protein associated with hearing...

Waardenburg syndrome is a rare autosomal dominant disease that may cause hearing loss, pigmentary abnormalities, neurocristopathy and partial albinism. Incidence is estimated as 2%-3% among the cases of congenital deafness and 1/42,000 of the general population. Children with Waardenburg syndrome usually require anaesthesia for the cochlear implant operation in early age. The features of the sy...

Purpose : The aim of our work is to study the clinical, electrical, imaging and evolutionary profile epilepsy caused by mutation TBC1D24 gene in patients emphasize interest genetic counseling.
 Methodology This a qualitative observational about 3 cases, highlighting characteristics disease.
 Findings In this we report clinical history three from two families, hospitalized at Mohamed V...

We have cloned a human cDNA, DELGEF (deafness locus associated putative guanine nucleotide exchange factor), derived from a 225 kb genomic sequence of chromosome 11p14, critical for the Usher 1C syndrome and for DFNB18, a locus for non-syndromic sensorineural deafness. The amino acid sequence of the protein hDelGEF1 is homologous to the nucleotide exchange factor RCCI for the small GTPase Ran. ...