{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T20:54:44Z","timestamp":1757451284029},"reference-count":10,"publisher":"Scientific Scholar","content-domain":{"domain":["clinicalimagingscience.org"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:p>CHARGE syndrome is a common cause of congenital anomalies. Its rate of incidence is about 1:10,000. It is phenotypically heterogeneous, usually a sporadic or autosomal dominant disorder resulting from a mutation in the CHD7 (chromodomain helicase DNA-binding protein) gene. Since the time it was first described by Hall,[1] the knowledge of the clinical characteristics of CHARGE syndrome has increased over the years. Recently, basiocciput hypoplasia and basilar invagination in patients with CHARGE syndrome have been reported. We report here a case of CHARGE syndrome where there is involvement of symmetrical chorioretinal colobomata with craniovertebral junction anomalies. The patient had symmetrical chorioretinal colobomata, external and inner ear anomalies, sensorineural deafness, characteristic facial appearance, retarded growth and development, history of patent ductus arteriosus, and craniovertebral junction anomalies. Craniovertebral junction anomalies may be an under-diagnosed phenotypic expression of CHARGE syndrome. The diagnostic criteria of CHARGE syndrome may require further revision to include the addition of craniovertebral junction anomalies.<\/jats:p>","DOI":"10.4103\/2156-7514.126046","type":"journal-article","created":{"date-parts":[[2014,1,29]],"date-time":"2014-01-29T10:55:51Z","timestamp":1390992951000},"page":"5","update-policy":"http:\/\/dx.doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Symmetrical Chorioretinal Colobomata with Craniovertebral Junction Anomalies in CHARGE Syndrome - A Case Report with Review of Literature"],"prefix":"10.25259","volume":"4","author":[{"given":"Tanie","family":"Natung","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amit","family":"Goyal","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akash","family":"Handique","sequence":"additional","affiliation":[{"name":"Department of Radiology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manish","family":"Kapoor","sequence":"additional","affiliation":[{"name":"Department of Cardiology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2014,1,30]]},"reference":[{"key":"10.4103\/2156-7514.126046\/ref-1","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/S0022-3476(79)80513-2","article-title":"Choanal atresia and associated multiple anomalies","volume":"95","author":"Hall","year":"1979","journal-title":"J Pediatr"},{"key":"10.4103\/2156-7514.126046\/ref-2","doi-asserted-by":"crossref","first-page":"629","DOI":"10.3174\/ajnr.A1380","article-title":"Abnormal Basiocciput Development in CHARGE Syndrome","volume":"30","author":"Fujita","year":"2009","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.4103\/2156-7514.126046\/ref-3","doi-asserted-by":"crossref","first-page":"122","DOI":"10.3928\/0191-3913-19790301-10","article-title":"Colobomatous microphthalmia, heart disease, hearing loss and mental retardation - A syndrome","volume":"16","author":"Hittner","year":"1979","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"10.4103\/2156-7514.126046\/ref-4","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0022-3476(81)80454-4","article-title":"Coloboma, congenital heart disease and choanal atresia with multiple anomalies: CHARGE association","volume":"99","author":"Pagon","year":"1981","journal-title":"J Pediatr"},{"key":"10.4103\/2156-7514.126046\/ref-5","doi-asserted-by":"crossref","first-page":"100","DOI":"10.3928\/0191-3913-19980301-09","article-title":"CHARGE Association: Histopathological Report of Two Cases and a Review","volume":"35","author":"Hayashi","year":"1998","journal-title":"J Pediar Ophthalmol Strabismus"},{"key":"10.4103\/2156-7514.126046\/ref-6","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1177\/000992289803700302","article-title":"CHARGE Association: Update and Review for the Primary Pediatrician","volume":"37","author":"Blake","year":"1998","journal-title":"Clin Pediatr (Phila)"},{"key":"10.4103\/2156-7514.126046\/ref-7","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/ajmg.a.30559","article-title":"Updated diagnostic Criteria for CHARGE Syndrome: A Proposal","volume":"133A","author":"Verloes","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.4103\/2156-7514.126046\/ref-8","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/sj.ejhg.5201778","article-title":"CHARGE syndrome: An update","volume":"15","author":"Sanlaville","year":"2007","journal-title":"Euro J Hum Genet"},{"key":"10.4103\/2156-7514.126046\/ref-9","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1002\/ajmg.a.33323","article-title":"Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome","volume":"152A","author":"Zentner","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.4103\/2156-7514.126046\/ref-10","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.1016\/S0161-6420(88)32968-4","article-title":"Ocular Findings in CHARGE Syndrome. Six case reports and a review","volume":"95","author":"Chestler","year":"1988","journal-title":"Ophthalmology"}],"container-title":["Journal of Clinical Imaging Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/clinicalimagingscience.org\/symmetrical-chorioretinal-colobomata-with-craniovertebral-junction-anomalies-in-charge-syndrome-a-case-report-with-review-of-literature\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/clinicalimagingscience.org\/symmetrical-chorioretinal-colobomata-with-craniovertebral-junction-anomalies-in-charge-syndrome-a-case-report-with-review-of-literature\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,24]],"date-time":"2022-03-24T17:01:25Z","timestamp":1648141285000},"score":1,"resource":{"primary":{"URL":"https:\/\/clinicalimagingscience.org\/symmetrical-chorioretinal-colobomata-with-craniovertebral-junction-anomalies-in-charge-syndrome-a-case-report-with-review-of-literature\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,30]]},"references-count":10,"alternative-id":["10.4103\/2156-7514.126046"],"URL":"https:\/\/doi.org\/10.4103\/2156-7514.126046","relation":{},"ISSN":["2156-7514"],"issn-type":[{"value":"2156-7514","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,30]]},"article-number":"5"}}