title: Symmetrical Chorioretinal Colobomata with Craniovertebral Junction Anomalies in CHARGE Syndrome - A Case Report with Review of Literature.
abstract: 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.
authors.affiliation: Department of Ophthalmology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, India.
authors.forename: Tanie
authors.initials: T
authors.lastname: Natung
authors.affiliation: Department of Otorhinolaryngology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
authors.forename: Amit
authors.initials: A
authors.lastname: Goyal
authors.affiliation: Department of Radiology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, India.
authors.forename: Akash
authors.initials: A
authors.lastname: Handique
authors.affiliation: Department of Cardiology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, India.
authors.forename: Manish
authors.initials: M
authors.lastname: Kapoor
keywords: Atresia choanae; CHD7; charge syndrome; chorioretinal colobomata; craniovertebral junction anomalies; semicircular canals