Charles S, Passuti N, Rogez J M, David A
Service d'Orthopédie Adulte et Infantile, CHU de Nantes, Hôpital Saint-Jacques, Nantes.
Chir Pediatr. 1988;29(1):36-8.
The Coffin-Lowry is characterized by mental retardation, characteristic facies and hands, and skeletal changes. Discovery of two others brothers presenting vertebral curvature and suffering from the same syndrome led to a familial investigation which allowed the making of an inventory of six members affected in this family. Only subjects with characteristic fingers were included because according to Lowry this anomaly is necessary to assert the Coffin-Lowry syndrome. The series is quite interesting because this is the greatest of Lowry with five cases. The authors emphasize the importance of a detailed preoperative cardiac exploration to search for cardiomyopathy the existence of which in Coffin-Lowry syndrome was never noted before.
科芬-洛里综合征的特征为智力发育迟缓、特殊面容与手部表现以及骨骼改变。发现另外两名患有脊柱侧弯且患同一综合征的兄弟后,开展了一项家族调查,得以梳理出该家族中六名受影响成员。仅纳入具有特征性手指的受试者,因为据洛里所述,这种异常对于确诊科芬-洛里综合征是必要的。该病例系列颇为有趣,因为这是洛里所报道病例数最多的,有五例。作者强调术前进行详细心脏检查以排查心肌病的重要性,此前科芬-洛里综合征中从未有过心肌病存在的记录。