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Cantu syndrome and lymphoedema.

Clin Dysmorphol

January 2011

Instituto de Genetica Humana 'Dr Enrique Corona Rivera' Instituto de Enfermedades Cronico-Degenerativas, Departamento de Biologia Molecular y Genomica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara Hospital de Especialidades, CMNO Division de Medicina Molecular, CIBO, CMNO, IMSS Hospital General Regional 46 Hospital General Regional 45, IMSS, Guadalajara, Jalisco, Mexico Instituto de Genetica de la Facultad de Ciencias Medicas de la Universidad Nacional de Cuyo, Mendoza, Argentina.

Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition.

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