Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach
Dieuwerke R Dijk,1 Gianni Bocca,2 Conny M van Ravenswaaij-Arts11Department 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 Groni...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2019-08-01
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| Series: | Journal of Multidisciplinary Healthcare |
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| Online Access: | https://www.dovepress.com/growth-in-charge-syndrome-optimizing-care-with-a-multidisciplinary-app-peer-reviewed-article-JMDH |
| _version_ | 1818940854130180096 |
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| author | Dijk DR Bocca G van Ravenswaaij-Arts CM |
| author_facet | Dijk DR Bocca G van Ravenswaaij-Arts CM |
| author_sort | Dijk DR |
| collection | DOAJ |
| description | Dieuwerke R Dijk,1 Gianni Bocca,2 Conny M van Ravenswaaij-Arts11Department 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 NetherlandsAbstract: 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 |
| first_indexed | 2024-12-20T06:46:15Z |
| format | Article |
| id | doaj.art-ac5cf94e394d4b1d8149b34273fd1832 |
| institution | Directory Open Access Journal |
| issn | 1178-2390 |
| language | English |
| last_indexed | 2024-12-20T06:46:15Z |
| publishDate | 2019-08-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Journal of Multidisciplinary Healthcare |
| spelling | doaj.art-ac5cf94e394d4b1d8149b34273fd18322022-12-21T19:49:43ZengDove Medical PressJournal of Multidisciplinary Healthcare1178-23902019-08-01Volume 1260762047579Growth in CHARGE syndrome: optimizing care with a multidisciplinary approachDijk DRBocca Gvan Ravenswaaij-Arts CMDieuwerke R Dijk,1 Gianni Bocca,2 Conny M van Ravenswaaij-Arts11Department 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 NetherlandsAbstract: 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 hypogonadismhttps://www.dovepress.com/growth-in-charge-syndrome-optimizing-care-with-a-multidisciplinary-app-peer-reviewed-article-JMDHCHARGE syndromegrowthshort staturemultidisciplinaryhypogonadotropic hypogonadism |
| spellingShingle | Dijk DR Bocca G van Ravenswaaij-Arts CM Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach Journal of Multidisciplinary Healthcare CHARGE syndrome growth short stature multidisciplinary hypogonadotropic hypogonadism |
| title | Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach |
| title_full | Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach |
| title_fullStr | Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach |
| title_full_unstemmed | Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach |
| title_short | Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach |
| title_sort | growth in charge syndrome optimizing care with a multidisciplinary approach |
| topic | CHARGE syndrome growth short stature multidisciplinary hypogonadotropic hypogonadism |
| url | https://www.dovepress.com/growth-in-charge-syndrome-optimizing-care-with-a-multidisciplinary-app-peer-reviewed-article-JMDH |
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