Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations
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DOI：
10.1136/jmg.2007.054460
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发表时间：
2008-04-01
影响因子：
4
通讯作者：
Allanson, J. E.
中科院分区：
文献类型：
--
作者：
Armour, C. M.;Allanson, J. E.
背景：心面部皮肤综合征是一种多发性先天性畸形/智力低下综合征，因其特有的相型、心脏畸形和外胚层异常而得名。虽然相当多的文献描述了主要特征，但很少有研究记录较不常见的特征的频率，从而更好地了解完整的表型。方法：我们分析了38例患者的临床数据，其中一种已知导致疾病的基因被证实为突变。结果：羊水过多(77%)和早产(49%)是常见的围产期问题。71%的患者有心脏畸形，最常见的是肺动脉瓣狭窄(42%)、肥厚型心肌病(39%)和房间隔缺损(28%)。头发异常也很典型：92%的人有卷发，84%的人头发稀疏，86%的人没有或稀疏眉毛。最常见的皮肤特征是毛发角化(73%)、角化过度(61%)和痣(76%)。显著且长期存活的胃肠动力障碍(71%)、癫痫(49%)、视神经发育不良(30%)和肾脏异常(主要是肾积水(20%))是较不为人所知的问题。
Background: Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly/mental retardation syndrome named because of a characteristic facies, cardiac anomalies, and ectodermal abnormalities. While considerable literature describes the main features, few studies have documented the frequencies of less common features allowing a greater appreciation of the full phenotype.Methods: We have analysed clinical data on 38 individuals with CFC and a confirmed mutation in one of the genes known to cause the condition. We provide data on well-established features, and those that are less often described.Results: Polyhydramnios (77%) and prematurity (49%) were common perinatal issues. 71% of individuals had a cardiac anomaly, the most common being pulmonary valve stenosis (42%), hypertrophic cardiomyopathy (39%), and atrial septal defect (28%). Hair anomalies were also typical: 92% had curly hair, 84% sparse hair, and 86% absent or sparse eyebrows. The most frequent cutaneous features were keratosis pilaris (73%), hyperkeratosis (61%) and nevi (76%). Significant and long lived gastrointestinal dysmotility (71%), seizures (49%), optic nerve hypoplasia (30%) and renal anomalies, chiefly hydronephrosis (20%), were among the less well known issues reported.Conclusion: This study reports a broad range of clinical issues in a large cohort of individuals with molecular confirmation of CFC.