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Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome

✍ Scribed by Cunniff, Christopher ;Curry, Cynthia J. R. ;Carey, John C. ;Graham, John M. ;Williams, Charles A. ;Stengel-Rutkowski, Sabine ;Lüttgen, Sabine ;Meinecke, Peter

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
407 KB
Volume
47
Category
Article
ISSN
0148-7299

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✦ Synopsis

We present 12 children with typical Brachmann-de Lange syndrome and congenital diaphragmatic hernia. Affected children were more likely to be of low birth weight and to have major upper limb malformations. Hernia repair was attempted in 4 of these children, and only one survived past 12 months. Newborn infants with congenital diaphragmatic hernia should be examined carefully for evidence of the Brachmann-de Lange syndrome because diagnosis of this condition may influence their clinical management and prognosis.

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## Abstract Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (__WT1__), the paired box gene 6 (__PAX6__), and possibly other genes on chromosome 11p13. __WT1__ is required for normal format