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Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach

Authors Dijk DR, Bocca G, van Ravenswaaij-Arts CM

Received 1 March 2019

Accepted for publication 12 July 2019

Published 1 August 2019 Volume 2019:12 Pages 607—620


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Dr Scott Fraser

Dieuwerke R Dijk,1 Gianni Bocca,2 Conny M van Ravenswaaij-Arts1

1Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; 2Department of Pediatrics, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands

Abstract: CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital hypoplasia, Ear anomalies including hearing loss) syndrome is a rare syndrome with an incidence of approximately 1:15,000 newborns. It is caused by pathogenic variants in the CHD7 gene and clinically characterized by a wide range of anomalies with variable expression. Growth retardation affects 60–72% of children with CHARGE syndrome, making it one of the most prominent medical issues in the syndrome. Growth retardation in CHARGE syndrome is thought to be multifactorial and can be influenced by almost all co-morbidities, requiring a multidisciplinary approach to the different medical problems. In this systematic review, we describe what is currently known about growth in CHARGE syndrome and how it is influenced by commonly seen clinical problems including feeding difficulties, hypogonadotropic hypogonadism and growth hormone deficiency. Furthermore, we provide recommendations for a multidisciplinary approach.

Keywords: CHARGE syndrome, growth, short stature, multidisciplinary, hypogonadotropic hypogonadism

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