RT Journal Article SR Electronic T1 Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy? JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 458 OP 461 DO 10.1136/jmg.31.6.458 VO 31 IS 6 A1 Eng, C A1 Murday, V A1 Seal, S A1 Mohammed, S A1 Hodgson, S V A1 Chaudary, M A A1 Fentiman, I S A1 Ponder, B A A1 Eeles, R A YR 1994 UL http://jmg.bmj.com/content/31/6/458.abstract AB 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.