Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?
نویسندگان
چکیده
منابع مشابه
Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?
This case report describes a 4 year old boy with the unique triad of lipomatous myelomeningocele, congenital hypothyroidism secondary to thyroid agenesis, and sensorineural deafness. While associations between deafness and abnormal thyroid function and deafness and sacral lipoma have previously been described, the constellation of findings in this patient has not been reported.
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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...
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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...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1998
ISSN: 1468-6244
DOI: 10.1136/jmg.35.11.948