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Review
. 2017 Dec;175(4):450-464.
doi: 10.1002/ajmg.c.31593. Epub 2017 Nov 23.

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

Christa M de Geus  1   2 , Rolien H Free  1   3 , Berit M Verbist  4   5 , Deborah A Sival  1   6 , Kim D Blake  7   8 , Linda C Meiners  1   9 , Conny M A van Ravenswaaij-Arts  1   2
Affiliations
Review

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

Christa M de Geus et al. Am J Med Genet C Semin Med Genet. 2017 Dec.

Abstract

"CHARGE syndrome" is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. Here we perform a structured literature review to examine all the existing advice. Our findings provide additional support for the validity of the recently published Trider checklist. We also identified a gap in literature when reviewing all guidelines and recommendations, and we propose a guideline for neuroradiological evaluation of patients with CHARGE syndrome. This is of importance, as patients with CHARGE are at risk for peri-anesthetic complications, making recurrent imaging procedures under anesthesia a particular risk in clinical practice. However, comprehensive cranial imaging is also of tremendous value for timely diagnosis, proper treatment of symptoms and for further research into CHARGE syndrome. We hope the guideline for neuroradiological evaluation will help clinicians provide efficient and comprehensive care for individuals with CHARGE syndrome.

Keywords: CHARGE syndrome; CHD7; CT; MRI; guidelines.

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Figures

Figure 1
Figure 1
The Trider checklist. Republished (with permission) from Trider C‐L, Arra‐Robar A, van Ravenswaaij‐Arts C, Blake K. 2017. Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe). American Journal of Medical Genetics Part A, 173A, 684–691. A PDF of the checklist is available for download from https://www.chargesyndrome.org/wp-content/uploads/2016/03/CHARGE-Syndrome-Checklist.pdfgr1
Figure 2
Figure 2
Clivus abnormalities in CHARGE syndrome. Normal anatomy (left) and typical CHARGE clivus in a 22‐month‐old boy (right). The clivus and sphenobasion have been outlined in yellow with the clivus indicated with red lines
Figure 3
Figure 3
Guideline for CT and MR imaging in CHARGE syndrome
See this image and copyright information in PMC

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