Exner G U
Orthopädische Universitätsklinik Balgrist, Zurich, Switzerland.
Eur J Pediatr. 1988 Jun;147(5):544-6. doi: 10.1007/BF00441987.
A 5-year-old girl is reported with small stature, unusual facial appearance, polycystic kidneys and elongated curved fibulae as the most impressive radiographic finding. From the close similarity with another girl described recently and discrepancies between these two patients and others with Melnick-Needles syndrome it is assumed that they may present a separate hitherto unreported entity or syndrome.
据报道,一名5岁女孩身材矮小,面部外观异常,患有多囊肾,其最显著的影像学表现是腓骨细长弯曲。鉴于与最近描述的另一名女孩极为相似,且这两名患者与其他患有梅尔尼克-尼德尔斯综合征的患者存在差异,推测他们可能代表一种迄今未报告的独立疾病或综合征。