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782 results for

Myelomeningocele

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781. Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness? (Full text)

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.

1998 Journal of Medical Genetics PubMed

782. Waardenburg syndrome and myelomeningocele in a family. (Full text)

Waardenburg syndrome and myelomeningocele in a family. We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.

1993 Journal of Medical Genetics PubMed

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