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心脏-颜面-皮肤(CFC)综合征:两名儿童的神经学特征

Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children.

作者信息

Raymond G, Holmes L B

机构信息

Harvard Medical School, Pediatrician, Embryology-Teratology Unit, Boston, MA.

出版信息

Dev Med Child Neurol. 1993 Aug;35(8):727-32. doi: 10.1111/j.1469-8749.1993.tb11718.x.

Abstract

Cardio-facio-cutaneous (CFC) syndrome consists of heart defects, a characteristic facial appearance, ectodermal abnormalities, growth retardation and developmental delay. The authors report two children with this condition, drawing particular attention to the neurological manifestations. The neurological features are neuro-opthalmological findings such as strabismus, ptosis and nystagmus, cortical atrophy, ventriculomegaly, mental retardation, seizures and hypotonia. These manifestations may allow differentiation of CFC from Noonan syndrome, which shares many of the physical features, but not these neurological features.

摘要

心脏-颜面-皮肤(CFC)综合征包括心脏缺陷、特征性面容、外胚层异常、生长发育迟缓及发育延迟。作者报告了两名患有此病的儿童,特别关注其神经学表现。神经学特征包括神经眼科表现,如斜视、上睑下垂和眼球震颤、皮质萎缩、脑室扩大、智力迟钝、癫痫发作和肌张力减退。这些表现可能有助于将CFC与努南综合征区分开来,后者有许多相同的身体特征,但没有这些神经学特征。

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