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Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome
C Cunniff1, C J Curry, J C Carey
1Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock 72205.
Insights
Children with Brachmann-de Lange syndrome often have congenital diaphragmatic hernia. Early diagnosis is crucial for managing these infants and improving their prognosis.
Area of Science:
- Genetics
- Pediatrics
- Developmental Biology
Background:
- Congenital diaphragmatic hernia (CDH) is a serious birth defect.
- Brachmann-de Lange syndrome (BDS) is a genetic disorder with diverse congenital anomalies.
Observation:
- A cohort of 12 children with typical Brachmann-de Lange syndrome and CDH was studied.
- Affected children frequently presented with low birth weight and upper limb malformations.
Findings:
- Surgical repair of CDH in these patients had a high mortality rate.
- Only one of the four infants who underwent hernia repair survived beyond 12 months.
Implications:
- Newborns with CDH require thorough evaluation for BDS.
- Diagnosing BDS in infants with CDH can significantly alter clinical management and prognosis.
- This highlights the importance of recognizing syndromic associations in neonates with congenital anomalies.
Abstract:
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.