2 results match your criteria: "IMSS Hospital General Regional 46[Affiliation]"

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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Second female case of Myhre syndrome.

Clin Dysmorphol

April 2004

Divisiones de Medicina Molecular y Genetica, Centro de Investigacion Biomedica de Occidente Servicio de Otorrinolaringologia, Hospital de Especialidades Cirugia Pediatrica, Hospital de Pediatria, CMNO, IMSS Hospital General Regional 46, IMSS Doctorado de Genetica Humana, CUCS, Universidad de Guadalajara CIATEJ (CONACYT), Guadalajara, Jalisco Departamento de Inmunobiologia Molecular, Centro de Investigación Biomédica, Facultad de Medicina, Universidad Autonoma de Coahuila. Torreon, Coahuila, Mexico.

Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients.

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