title: Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of California, San Francisco.
authors.forename: E
authors.initials: E
authors.lastname: Chen
authors.forename: J P
authors.initials: JP
authors.lastname: Johnson
authors.forename: V A
authors.initials: VA
authors.lastname: Cox
authors.forename: M
authors.initials: M
authors.lastname: Golabi
mesh_terms: D000015:Abnormalities, Multiple; D000172:Acromegaly / Q000150:complications; D005500:Follow-Up Studies; D005877:Gigantism / Q000150:complications*; D006548:Hernia, Diaphragmatic / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007085:Ilium / Q000002:abnormalities; D007231:Infant, Newborn; D008202:Lymphangioma / Q000150:complications; D008297:Male; D010375:Pedigree; D011859:Radiography; D012447:Sacrum / Q000002:abnormalities; D012729:Sex Chromosome Aberrations / Q000473:pathology*; D012983:Soft Tissue Neoplasms / Q000150:complications; D013577:Syndrome; D014960:X Chromosome