Castel Y, Toudic L, Alix D, Le Guern H, Colin A, Lavaud J, Le Gouguec C
Arch Fr Pediatr. 1982 Jan;39(1):3-7.
In a newborn, the presence of an abdominal tumor due to hydrocolpos resulting from vaginal atresia, with polydactyly and a congenital heart disease suggest the diagnosis of McKusick-Kaufman syndrome. This syndrome is different from the Ellis Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with "chondrodysplasia' and "ectodermodysplasia'.
在新生儿中，因阴道闭锁导致的阴道积水引起腹部肿瘤，同时伴有多指畸形和先天性心脏病，提示麦库西克-考夫曼综合征的诊断。该综合征与埃利斯-范克里维尔德综合征不同，后者也包括多指畸形和先天性心脏病，还伴有“软骨发育不良”和“外胚层发育不良”。
