Antich J, Manzanares R, Camarasa F, Krauel X, Vila J, Cusi V
Secció de Genètica, Hospital Sant Joan de Deu, Barcelona, Spain.
Am J Med Genet. 1995 Oct 23;59(1):96-9. doi: 10.1002/ajmg.1320590119.
We report on two further cases, a sister and a brother, with Schinzel-Giedion syndrome. Both presented the following manifestations: "coarse face" with midface retraction, agenesis of corpus callosum, bilateral hydronephrosis, and typical skeletal anomalies. Patient 1 had a malignant sacrococcygeal teratoma. This is the third case of malignancy in this syndrome. Patient 2 died shortly after birth.
我们报告另外两例患有辛泽尔-吉迪恩综合征的病例,分别是一名姐妹和一名兄弟。两人均表现出以下症状:“面容粗糙”伴面中部后缩、胼胝体发育不全、双侧肾积水以及典型的骨骼异常。病例1患有恶性骶尾部畸胎瘤。这是该综合征中出现的第三例恶性肿瘤病例。病例2出生后不久即死亡。