Although the textbook view of Pendred syndrome is that of an autosomal recessive condition characterized by deafness and goitre, it is increasingly clear that not all such patients present this classical clinical picture. Malformations of the inner ear, specifically enlargement of the vestibular aqueduct, are common in Pendred syndrome and mutations in the PDS (Pendred Syndrome) gene have been ...

production, reproduction, management and economic parameters resulted from recordings of 5 flocks comprised of 720 heads of native goats during annual cycle of reproduction in transhumance, village and farming systems were employed to determine the performance of traits, cost-profit analysis as well as breeding objective. the overall mean for number of salable kid per goat in transhumance, vill...

Inherited long QT syndrome is most frequently associated with mutations in KCNQ1, which encodes the primary subunit of a potassium channel. Patients with mutations in KCNQ1 may show only the cardiac defect (Romano-Ward syndrome or RWS) or may also have severe deafness (Jervell and Lange-Nielsen syndrome or JLNS). Targeted disruption of mouse Kcnq1 models JLNS in that mice are deaf and show abno...

We report a new disorder with diverse neurological problems resulting from abnormal brainstem function. Consistent features of this disorder, which we propose should be called the Atabascan brainstem dysgenesis syndrome, include horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Other features seen in some patients include swallowing dysfunction, vo...

Purpose of review Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the end...

i Harriet Shezi Children’s Clinic, Chris Hani Baragwanath Hospital, Wits Paediatric HIV Clinics, University of the Witwatersrand ii Department of Molecular Medicine and Haematology, National Health Laboratory Service and Wits Paediatric HIV Clinics, University of the Witwatersrand iii Department of Paediatrics and Child Health, KID-CRU, Tygerberg Children’s Hospital & Stellenbosch University iv...

Twenty-two patients with Sjögren's syndrome uncomplicated by a connective tissue disorder, 31 with Sjögren's syndrome complicated by rheumatoid arthritis, and 21 with rheumatoid arthritis alone were studied with particular reference to changes in the ears and in the upper respiratory and digestive tracts.Epistaxis, soreness and dryness of the throat, dysphagia, and hoarseness were common sympto...

Profound deafness is one of the most striking features of certain congenital thyroid diseases. In addition, lesser defects in auditory function, albeit of uncertain incidence and severity, have been described in acquired thyroid disorders in later life. Numerous reports in the medical literature have indicated a link between the function of the thyroid gland and the development and possibly the...

BACKGROUND Hereditary forms of hearing loss are classified as syndromic, when deafness is associated with other clinical features, or non-syndromic, when deafness occurs without other clinical features. Many types of syndromic deafness have been described, some of which have been mapped to specific chromosomal regions. METHODS Here we describe a family with progressive sensorineural hearing l...

Three new cases of oculodentodigital (ODD) syndrome are reported. The clinical features are discussed and the development of the characteristic facial appearance is illustrated. Conductive deafness is reported in one of our cases and has been reported in six previous cases. It is suggested that it is a feature of the syndrome which is amenable to treatment.