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Cornelia de Lange Spectrum.

Authors :
Ascaso Á
Arnedo M
Puisac B
Latorre-Pellicer A
Del Rincón J
Bueno-Lozano G
Pié J
Ramos FJ
Source :
Anales de pediatria [An Pediatr (Engl Ed)] 2024 May; Vol. 100 (5), pp. 352-362. Date of Electronic Publication: 2024 May 11.
Publication Year :
2024

Abstract

Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. The clinical presentation is highly variable, but the classic phenotype, characterized by distinctive craniofacial features, pre- and postnatal growth retardation, extremity reduction defects, hirsutism and intellectual disability can be distinguished from the nonclassic phenotype, which is generally milder and more difficult to diagnose. In addition, the clinical features overlap with those of other neurodevelopmental disorders, so the use of consensus clinical criteria and artificial intelligence tools may be helpful in confirming the diagnosis. Pathogenic variants in NIPBL, which encodes a protein related to the cohesin complex, have been identified in more than 60% of patients, and pathogenic variants in other genes related to this complex in another 15%: SMC1A, SMC3, RAD21, and HDAC8. Technical advances in large-scale sequencing have allowed the description of additional genes (BRD4, ANKRD11, MAU2), but the lack of molecular diagnosis in 15% of individuals and the substantial clinical heterogeneity of the syndrome suggest that other genes and mechanisms may be involved. Although there is no curative treatment, there are symptomatic/palliative treatments that paediatricians should be aware of. The main medical complication in classic SCdL is gastro-esophageal reflux (GER), which should be treated early.<br /> (Copyright © 2024 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.)

Details

Language :
English
ISSN :
2341-2879
Volume :
100
Issue :
5
Database :
MEDLINE
Journal :
Anales de pediatria
Publication Type :
Academic Journal
Accession number :
38735830
Full Text :
https://doi.org/10.1016/j.anpede.2024.04.012