Narbay G, Meire F, Verloes A, Casteels I, Devos E
Department of Ophthalmology, University of Gent, Belgium.
Bull Soc Belge Ophtalmol. 1996;261:65-70.
The authors present two patients with Delleman syndrome and one in with possible ECCL. Two boys with Delleman syndrome showed characteristic dysmorphic features with cerebral, ocular and skin malformations. The ocular anomalies consisted of eyelid coloboma, microphthalmia, iris coloboma and epibulbar lypodermoids. A third boy with possible ECCL syndrome had limbal lypodermoids, ectopia pupillae and aberrant iris tissue in the right eye. He showed an ipsilateral focal dermal hypoplastic defect within an area of alopecia of the scalp.
作者报告了两名患有德雷尔曼综合征的患者以及一名可能患有眼皮肤脉络膜缺损综合征（ECCL）的患者。两名患有德雷尔曼综合征的男孩表现出具有脑、眼和皮肤畸形的特征性畸形面容。眼部异常包括眼睑缺损、小眼症、虹膜缺损和眼球表层皮样瘤。第三名可能患有ECCL综合征的男孩右眼有角膜缘皮样瘤、瞳孔异位和异常虹膜组织。他在头皮脱发区域内有同侧局限性皮肤发育不全缺损。
