AI Article Synopsis
- CHARGE syndrome, affecting about 1 in 15,000 newborns, is characterized by various anomalies including eye and heart defects, growth retardation, and ear issues, primarily caused by gene variants.
- Growth retardation is a common concern, affecting 60-72% of those with the syndrome, and is linked to multiple factors, necessitating a comprehensive treatment plan.
- The systematic review highlights the influence of clinical challenges like feeding difficulties and hormonal deficiencies on growth in CHARGE syndrome while recommending a multidisciplinary approach for better management of these issues.
Article 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 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6682174 | PMC |
| http://dx.doi.org/10.2147/JMDH.S175713 | DOI Listing |
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