Zampino G, Balducci F, Mariotti P, Dickmann A, Mastroiacovo P
Istituto di Pediatria, Rome, Università Cattolica, Italy.
Am J Med Genet. 2000 Feb 28;90(5):358-60.
We report on a girl with growth and mental retardation, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, congenital heart defect, and anal atresia. A similar condition was reported previously by Wiedemann et al. [1982: An atlas of characteristic syndromes: a visual aid to diagnosis, 2nd ed. p 114-115]. We confirm the existence of this condition that, although similar to Ohdo syndrome, seems to be an independent clinical entity. We propose that, based on the principal clinical manifestations, this condition should be identified with the acronym ROCA (retardation of growth and development, ocular ptosis, cardiac defect, and anal atresia).
我们报告了一名患有生长发育迟缓和智力障碍的女孩，其面容奇特，伴有上睑下垂、内眦赘皮、鼻梁宽、耳朵低位且形态异常、悬雍垂裂、先天性心脏缺陷和肛门闭锁。Wiedemann等人[1982年：《特征性综合征图谱：诊断视觉辅助工具》，第2版，第114 - 115页]之前曾报道过类似病例。我们证实了这种疾病的存在，尽管它与Ohdo综合征相似，但似乎是一种独立的临床实体。我们建议，根据主要临床表现，这种疾病应以首字母缩略词ROCA（生长发育迟缓、上睑下垂、心脏缺陷和肛门闭锁）来命名。
