Cornelia de Lange syndrome and congenital diaphragmatic hernia

Purpose: There is a known association between Cornelia de Lange syndrome (CdLS) and congenital diaphrag-matic 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. Methods: CDH Study Group patients from 1995 to 2019 were included. Those with CdLS were reviewed retro-spectively. Rates of repair and outcomes were compared between patients with and without CdLS. Results: 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. Conclusions: 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. Type of study: Retrospective comparative study Level of evidence: III (c) 2020 Elsevier Inc. All rights reserved.

Automated summary

Cornelia de Lange syndrome (CdLS) is associated with congenital diaphragmatic hernia (CDH), resulting in poorer outcomes for CdLS patients. However, those with CdLS who undergo repair can survive to discharge. A significant proportion of CdLS patients do not undergo diaphragmatic repair, leading to higher mortality rates.