Macrocephaly-cutis marmorata telangiectatica congenita:: Report of six new patients and a review
Macrocephaly-cutis marmorata telangiectatica congenita:: Report of six new patients and a review
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DOI：
10.1002/ajmg.a.30235
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发表时间：
2004-09-15
影响因子：
2
通讯作者：
Pajares, IL
中科院分区：
文献类型：
--
作者：
Lapunzina, P;Gairí, A;Pajares, IL
我们报告另外6例先天性巨头皮肤毛细血管扩张症(M-CMTC；MIM 602501)，并回顾文献。该综合征是一种多发性先天性畸形/智力低下和过度生长障碍，包括大头畸形、皮肤肥大、唇部和/或人中的血管印记、并发样、半身性肥大、中枢神经系统异常和发育迟缓。根据我们6名患者和之前报告的69名患者的研究结果，我们列出了该综合征的非常常见的(观察到的75%)、频繁的(25%-75%)和不太常见的(>；25%)成分。(C)2004年Wiley-Liss公司
We report on six additional patients with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC; MIM 602501) and review the literature. This syndrome is a multiple congenital anomalies/mental retardation and overgrowth disorder comprising macrocephaly, cutis marmorata, vascular marks of lip and/or philtrum, syndaetyly, hemihypertrophy, CNS anomalies, and developmental delay. Based on the findings in our 6 patients and on 69 patients previously reported we listed the very frequent (observed in > 75%), frequent (25-75%), and less frequent; (> 25%) components of the syndrome. (C) 2004 Wiley-Liss, Inc.