Department of Ophthalmology, Department of Radiology, Department of Cardiology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, Department of Otorhinolaryngology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
Date of Submission: 19-Sep-2013, Date of Acceptance: 01-Dec-2013, Date of Web Publication: 30-Jan-2014.
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, 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.
Jun-Ho Lee, Uk-Kyu KIM, Na-Rae Choi, Mi Heon Ryu, Yun-Hoa Jung, Jin-Young Park and Dae-Seok Hwang (2019) Reconstruction of A Palatal Mucosal Defect with A Buccal Fat Pad Flap after Mucoepidermoid Carcinoma Excision in A Child. Korean J. Oral Maxillofac. Pathol.43(2):59. doi: 10.17779/KAOMP.2019.43.2.003
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