Sarda P, Jalaguier J, Montoya F, Bonnet H
Service de Pédiatrie Néo-Natale, Hôpital Saint Charles, Montpellier.
J Genet Hum. 1988 Aug;36(4):353-60.
A case of uncommon genital lymphedema in a newborn girl like a pseudo sexual ambiguity is reported. The karyotype was 46, XX. Lymphedema of the lower limbs in the patient and in the mother's family confirmed a None-Milroy disease. Different considerations about genetic counseling in hereditary lymphedema, isolated or associated with others anomalies, are developed.
报告了一例新生儿女孩罕见的生殖器淋巴水肿病例，类似假性两性畸形。核型为46,XX。患者及其母系家族中的下肢淋巴水肿证实为非米尔罗伊病。文中阐述了关于遗传性淋巴水肿（孤立性或与其他异常相关）遗传咨询的不同考量。
