罗塞利-古列内蒂综合症

Rosselli and Gulienetti(1961) described 4 patients with anhidrosis, hypotrichosis, microdontia, dysplasia of nails, clef
Rosselli 和 Gulienetti(1961) 描述了 4 名患有无汗症、少毛症、小牙、指甲发育不良、唇腭裂、手指和脚趾畸形以及泌尿生殖系统畸形的患者。还描述了腘和会阴翼状胬肉。并指畸形是主要的指畸形。两名患者是兄妹,他们的父母是远房表兄弟姐妹。

Bowen 和 Armstrong(1976) 报道了一个家庭,其中 10 名同胞中有 3 名患有外胚层发育不良、智力低下和唇裂/腭裂。 3 名受影响的姐妹中,2 人脑电图异常、色素沉着过度、并指、眼睑粘连;其中一名患有生殖器发育不全。 Bowen 和 Armstrong(1976) 讨论了外胚层发育不良和唇腭裂合并的各种综合征。在与外胚层发育不良、唇裂/腭裂和肢体畸形相关的其他综合征中,少数包括并指畸形。显性 EEC 综合征(参见 129900)具有类似的特征。

Zlotogora(1994) 得出结论,Rosselli 和 Gulienetti(1961) 患者的面部皮肤营养不良,有剥落、拇指发育不全或发育不全的倾向,以及腘胬肉和会阴翼状胬肉,将这种疾病与以下描述的疾病区分开来: Zlotogora-Ogur 综合征和玛格丽塔岛外胚层发育不良(225060)。 Zlotogora(1994) 还得出结论,Bowen 和 Armstrong(1976) 报告的 3 名患者患有单独的疾病,因为其中 2 名患者存在眼睑粘连和皮肤缺损。
t lip and palate, deformity of the fingers and toes, and malformation in the genitourinary system. Popliteal and perineal pterygium was also described. Syndactyly was the predominant 手指 deformity. Two patients were brother and sister whose parents were second cousins.

Bowen and Armstrong(1976) reported a family in which 3 of 10 sibs had ectodermal dysplasia, mental retardation, and cleft lip/palate. Of the 3 affected sisters, 2 had an abnormal electroencephalogram, areas of hyperpigmentation, syndactyly, and adhesions between the eyelids; one had genital hypoplasia. Bowen and Armstrong(1976) discussed the various syndromes in which ectodermal dysplasia and cleft lip/palate are combined. Among other syndromes with ectodermal dysplasia, cleft lip/palate, and limb malformations, a few include syndactyly. The dominant EEC syndrome(see 129900) has similar features.

Zlotogora(1994) concluded that the presence in the patients of Rosselli and Gulienetti(1961) of dystrophic skin on the face with a tendency to desquamation, aplasia or hypoplasia of the thumb, and popliteal and perineal pterygium distinguished this disorder from that described both as Zlotogora-Ogur syndrome and Margarita island ectodermal dysplasia(225060). Zlotogora(1994) also concluded that the 3 patients reported by Bowen and Armstrong(1976) had a separate disorder because 2 of the patients had adhesion of the eyelids and skin defects.

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