Chen E, Johnson J P, Cox V A, Golabi M
Department of Pediatrics, University of California, San Francisco.
Am J Med Genet. 1993 Jun 15;46(5):574-8. doi: 10.1002/ajmg.1320460523.
This report suggests the association of congenital diaphragmatic hernia in Simpson-Golabi-Behmel syndrome by describing two unrelated males with this malformation. One male was the maternal half-nephew of our previously reported 8-year-old boy with this syndrome. Review of the skeletal roentgenograms of these 2 affected males, and those of the previously reported 8-year-old, documents flare of the iliac wings, narrow sacroiliac notches, and the presence of two carpal ossification centers as a newborn ("advanced bone age"). We also report the follow-up of the 8-year-old boy, now 16 years old, who continues to have significant overgrowth and speech, dental, developmental, and adjustment problems.
本报告通过描述两名患有这种畸形的无血缘关系男性，提示了先天性膈疝与辛普森-戈拉比-贝赫梅尔综合征之间的关联。其中一名男性是我们之前报道的患有该综合征的8岁男孩的母系半侄子。对这两名患病男性以及之前报道的8岁男孩的骨骼X线片进行回顾，发现有髂骨翼增宽、骶髂关节切迹变窄，以及新生儿期存在两个腕骨化中心（“骨龄提前”）。我们还报告了对那名8岁男孩的随访情况，他现在16岁，仍有明显的生长过速以及言语、牙齿、发育和适应方面的问题。
