J Pediatr Surg

. 2020 Jun 11;S0022-3468(20)30412-7. doi: 10.1016/j.jpedsurg.2020.06.003. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/32762940/

Cornelia de Lange syndrome and congenital diaphragmatic hernia

Vikas S Gupta ¹, Amir M Khan ², Ashley H Ebanks ¹, Pamela A Lally ¹, Kevin P Lally ¹, Matthew T Harting ³, Congenital Diaphragmatic Hernia Study GroupAffiliations expand

• PMID: 32762940
• DOI: 10.1016/j.jpedsurg.2020.06.003

Abstract

Purpose: 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.

Methods: 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.

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.

Keywords: Brachmann de Lange syndrome; CDH study group; Congenital diaphragmatic hernia; Cornelia de Lange syndrome; Outcomes.

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