Cornelia de Lange syndrome and congenital diaphragmatic hernia.

Autor: Gupta, Vikas S., Khan, Amir M., Ebanks, Ashley H., Lally, Pamela A., Lally, Kevin P., Harting, Matthew T.
Zdroj: Journal of Pediatric Surgery; Apr2021, Vol. 56 Issue 4, p697-699, 3p
Abstrakt: There is a known association between Cornelia de Lange syndrome (CdLS) and congenital diaphragmatic hernia (CDH), with CDH being the cause of death in 5%–20% of CdLS cases. We aimed to identify and describe patients with CDLS and CDH. We hypothesized that CdLS would be associated with high-risk CDH and poor outcomes. CDH Study Group patients from 1995 to 2019 were included. Those with CdLS were reviewed retrospectively. Rates of repair and outcomes were compared between patients with and without CdLS. We identified 9,251 CDH patients. Of those, 21 had confirmed CdLS. CdLS patients had a lower birth weight (2.2 ± 0.57 kg) than non-CdLS patients (2.9 ± 0.64 kg) (p < 0.001). 5-min Apgar scores were lower in CdLS patients (6, 4–7) than non-CdLS patients (7, 5–8) (p = 0.014). Only 33% of CdLS patients underwent diaphragmatic repair compared to 84.2% of non-CdLS patients (p < 0.001). Mortality was 76% for CdLS patients compared with 29% for non-CdLS patients (p < 0.001). Of the 7 CdLS patients who underwent repair, 5 survived to hospital discharge. Infants with CdLS and CDH have a poor prognosis. However, CdLS patients who undergo repair can survive to discharge; therefore, the concomitant diagnosis of CdLS and CDH is not necessarily a contraindication to repair. Early recognition of these anomalies can assist with counseling and prognostication. Retrospective comparative study III • CDH patients with Cornelia de Lange syndrome have a low rate of operative repair. • CDH patients with Cornelia de Lange that are repaired can survive to discharge. • Careful screening for chromosomal abnormalities is critical in CDH patients. • Patients with possible Cornelia de Lange syndrome should be screened for CDH. [ABSTRACT FROM AUTHOR]
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