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. 1994 Jun;31(6):458–461. doi: 10.1136/jmg.31.6.458

Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

C Eng 1, V Murday 1, S Seal 1, S Mohammed 1, S V Hodgson 1, M A Chaudary 1, I S Fentiman 1, B A Ponder 1, R A Eeles 1
PMCID: PMC1049923  PMID: 8071972

Abstract

Cowden syndrome is an autosomal dominant condition of multiple hamartomas. Patients with this phakomatosis have an increased risk of breast cancer and thyroid tumours. Lhermitte-Duclos disease is usually a sporadic condition of cerebellar ganglion cell hypertrophy, ataxia, mental retardation, and self-limited seizure disorder. We describe a three generation family with Cowden syndrome and Lhermitte-Duclos disease. Karyotyping performed on the peripheral lymphocytes of the proband and her affected mother showed a 46,XX complement. Single strand conformational polymorphism analysis failed to show any germline p53 mutations as a cause of the syndrome in this family.

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Selected References

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