Perri P F, Tubaldi L, Amadori O
Divisione di Pediatria, Ospedale di Macerata, Italia.
Pediatr Med Chir. 1987 Jul-Aug;9(4):499-501.
A case of Cornelia de Lange syndrome is described. The infant showed the typical morphologic malformations of the syndrome, a certain resemblance with his mother and maternal grandmother and, in agreement with the most part of literature, no karyotypic anomalies. The infant developed a Staphilococcal sepsis and died at 23 days of age.
本文描述了一例科妮莉亚·德朗热综合征病例。该婴儿表现出该综合征典型的形态学畸形,与他的母亲和外祖母有一定相似之处,并且与大多数文献一致,其核型无异常。该婴儿患了葡萄球菌败血症,于23日龄时死亡。