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坎图综合征与淋巴水肿。

Cantu syndrome and lymphoedema.

作者信息

García-Cruz Diana, Mampel Alejandra, Echeverria Maria I, Vargas Ana L, Castañeda-Cisneros Gema, Davalos-Rodriguez Nory, Patiño-Garcia Brenda, Garcia-Cruz Maria O, Castañeda Victor, Cardona Ernesto G, Marin-Solis Bertha, Cantu Jose M, Nuñez-Reveles Nelly, Moran-Moguel Cristina, Thavanati Pavarthi K R, Ramirez-Garcia Sergio, Sanchez-Corona Jose

机构信息

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.

出版信息

Clin Dysmorphol. 2011 Jan;20(1):32-37. doi: 10.1097/MCD.0b013e32833d015c.

DOI:10.1097/MCD.0b013e32833d015c
PMID:20890180
Abstract

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.

摘要

对三名患有坎图综合征的女性患者进行了研究,其中两名是成年患者,出现了淋巴水肿并发症,正如之前在一名患有该综合征的男性患者中所描述的那样。本研究的目的是报告这三例新病例的临床特征,并强调此处描述的两名患者中出现的淋巴水肿,在坎图综合征患者中发生率为11.5%,而在一名患者中观察到的虹膜异色症可能是这种疾病的一个新特征。

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