Download full-text PDF |
Source |
---|
World J Cardiol
January 2022
Department of Cardiovascular Surgery, Selcuk University Faculty of Medicine, Konya 42130, Turkey.
Background: Cornelia de Lange syndrome (CdLS) is a congenital multisystemic genetic disorder. The expected lifespan of children with this disorder has been prolonged in parallel with the advances in medicine in recent years. However, they still more frequently undergo cardiac surgery.
View Article and Find Full Text PDFJ Pediatr Surg
April 2021
Department of Pediatric Surgery, McGovern Medical School at the University of Texas Health Science Center and Children's Memorial Hermann Hospital, Houston, TX. Electronic address:
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.
View Article and Find Full Text PDFJ Pediatr Neurosci
January 2018
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Cornelia de Lange syndrome is a rare genetic condition with developmental disorder and malformation affecting multiple systems. To describe the clinical and laboratory details and outcome of the children diagnosed with Cornelia de Lange syndrome, we retrospectively studied six cases who presented to our hospital between the years 2013 and 2015. Almost all had developmental retardation, with recurrent respiratory tract infections, and feeding difficulties.
View Article and Find Full Text PDFCell Mol Biol (Noisy-le-grand)
August 2017
Department of Child Health, Faculty of Medicine, Universitas Padjadjaran /Hasan Sadikin General Hospital, Bandung, Indonesia.
Cornelia de Lange syndrome (CdLs), which is also called Brachmann de Lange syndrome, is a congenital disorder characterized by distinctive facial features, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities. The prevalence ranges from 1:100,000 to as high as 1:10,000. Most cases (50-60%) were carried mutation in NIPBL gene.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!