منابع مشابه
Hypoparathyroidism, sensorineural deafness, and renal disease
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...
متن کاملMalignant thymoma presenting as sensorineural deafness.
autoimmune disorders, most notably myasthenia gravis (MG) which is seen in up to 40% of cases.1,2 There are also a number of other less common autoimmune disorders associated with thymoma, including hyperexcitability syndromes,3 myositis,1 encephalitis,4 autonomic dysfunction,5 and lupus.6 In 2004 Vernino and Lennon7 reported autoimmune sensorineural hearing loss (SNHL) in two patients from the...
متن کاملScreening for sensorineural deafness by health visitors
Screening for hearing loss in the first year of life, using the distraction test, remains the responsibility of health visitors in most health districts in the United Kingdom. We have evaluated the screening procedure used routinely in one health region in a population of infants at increased risk of sensorineural deafness. They were infants who weighed less than 2000 g at birth or infants who ...
متن کاملThe Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.
The syndrome of familial hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR syndrome) is inherited as an autosomal dominant trait, caused by haploinsufficiency of the GATA3 gene in chromosome 10p. Although first described years ago, but the disease is considered to be very rare. Patients usually present with hypocalcemia, tetany, or afebrile convulsions at any age. Hearing los...
متن کاملAutosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia.
OBJECTIVE A family is described which has a unique combination of autosomal dominant hypoparathyroidism and sensorineural deafness without renal dysplasia. CASE REPORT The proband was a male infant aged 1 month with episodes of seizures for 20 days. He was born at 35 weeks' gestation without asphyxia, weighing 2040 g. His initial calcium, phosphorus and percentage of tubular reabsorption of p...
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ژورنال
عنوان ژورنال: AUDIOLOGY JAPAN
سال: 1986
ISSN: 1883-7301,0303-8106
DOI: 10.4295/audiology.29.435