Natung Tanie, Goyal Amit, Handique Akash, Kapoor Manish
Department of Ophthalmology, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences, Shillong, Meghalaya, India.
Department of Otorhinolaryngology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
J Clin Imaging Sci. 2014 Jan 30;4:5. doi: 10.4103/2156-7514.126046. eCollection 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,[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.
CHARGE综合征是先天性畸形的常见病因。其发病率约为1:10000。它在表型上具有异质性，通常是一种由CHD7（染色质结构域解旋酶DNA结合蛋白）基因突变引起的散发性或常染色体显性疾病。自首次由霍尔描述以来，[1]多年来对CHARGE综合征临床特征的认识不断增加。最近，已有关于CHARGE综合征患者枕骨基部发育不全和基底凹陷的报道。我们在此报告一例CHARGE综合征病例，该病例存在对称性脉络膜视网膜缺损并伴有颅颈交界区异常。该患者有对称性脉络膜视网膜缺损、外耳和内耳异常、感音神经性耳聋、特征性面容、生长发育迟缓、动脉导管未闭病史以及颅颈交界区异常。颅颈交界区异常可能是CHARGE综合征一种未被充分诊断的表型表现。CHARGE综合征的诊断标准可能需要进一步修订，以纳入颅颈交界区异常。
