Doerfler W, Wieczorek D, Gillessen-Kaesbach G, Albrecht B, Passarge E
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
Am J Med Genet. 1997 Dec 12;73(2):210-6.
We describe three brothers from a non-consanguineous family with microcephaly, mental and physical retardation, speech disorder, facial anomalies, and internal hydrocephalus in two of the three affected brothers. The youngest brother died at the age of 5 months. He had situs abdominalis inversus, ASD II, and had been operated for internal hydrocephalus and atresia of the biliary duct. A search in the Oxford Medical Database Dysmorphology Program suggested phenotypic similarities with two sisters described in 1972 by Osvaldo Mutchinick in Argentina. Although differences in their phenotypes exist, it is possible that the two sets of sibs represent the same, rare syndrome. This interpretation is supported by the origin of both families from the same geographic region.
我们描述了一个非近亲家庭的三兄弟，他们患有小头畸形、智力和身体发育迟缓、言语障碍、面部畸形，并且三兄弟中的两人患有内部脑积水。最小的弟弟在5个月大时死亡。他患有内脏反位、房间隔缺损II型，曾接受过内部脑积水和胆管闭锁手术。在牛津医学数据库畸形学项目中的检索表明，其表型与1972年阿根廷的奥斯瓦尔多·穆奇尼克描述的两姐妹相似。尽管他们的表型存在差异，但这两组兄弟姐妹有可能代表同一种罕见综合征。两个家庭来自同一地理区域这一情况支持了这一解释。
