Simpson‐Golabi‐Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow‐up of a previously reported case

AbstractThis 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. © 1993 Wiley‐Liss, Inc.