We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which i...

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.

We report the anaesthetic management of a 48-year-old male patient with Deafness, Onycho-Osteodystrophy and mental Retardation syndrome, epilepsy and cerebral palsy who had two dental procedures under anaesthetic care. For the first short examination sedoanalgesia was employed and the second, longer, procedure was performed under general anaesthesia. His airway management was moderately difficu...

Altogether 153 (60%) out of a sample of 253 people aged 70 years and over living in their own homes were found to have impaired hearing when tested by pure-tone audiometry. This is almost twice the prevalence found in all other studies, in which deafness was assessed clinically or by self-reporting. The prevalence of deafness increased with age. Evidence of organic brain syndrome (dementia), as...

Deafness and electrocardiographic changes (prolongation of the Q-T interval and inversion of the T wave) with a clinical picture of syncopal attacks and sudden death, were described as a distinct syndrome by Jervell and Lange-Nielsen in 1957. The syndrome is inherited as an autosomal recessive trait. In this study, all the cases reported since 1957 and their proposed prevalence are reviewed. Th...

Partial monosomy 10p is a rare chromosomal condition and a significant proportion of patients show features of DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). A critical haploinsufficiency region for DGS/VCFS was defined on 10p (DGCR2). We performed molecular deletion analysis of two further patients with partial monosomy 10p, who showed hypoparathyroidism, deafness, and renal dys...

Since its original description the diagnosis of word deafness has been greatly expanded. Confusion has arisen with regard to the usage of the related terms pure word deafness, auditory agnosia, and cortical deafness. Three new cases of word deafness are presented including one case with CT and necropsy correlation. These cases are compared with 34 previously reported cases of various cortical a...

Chronic renal failure is a well-known complication of long-standing diabetes. Moreover, audiological abnormalities are a common feature of patients with end-stage renal disease. Severe deafness, however, is not a typical symptom in most patients with chronic renal failure and likewise in patients with diabetes mellitus. In this case report, we describe a young patient with insulin-dependant dia...

In the past two years, considerable progress has been made in the mapping and cloning of human deafness genes. Highlights are the chromosomal localization of at least five genes for autosomal forms of non-syndromic deafness and, more recently, the cloning of an X-linked deafness gene, DFN3, and the Usher syndrome type IB gene. This last gene encodes a myosin-like protein and was identified as t...