Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?

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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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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...

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Conditions causing familial ataxia, deafness, and developmental delay are considered in the context of describing brothers with a new disorder characterised by these clinical features.

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Malignant thymoma presenting as sensorineural deafness.

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1998

ISSN: 1468-6244

DOI: 10.1136/jmg.35.11.948