Macrocephaly with cutis marmorata, haemangioma and syndactyly - a distinctive overgrowth syndrome
Macrocephaly with cutis marmorata, haemangioma and syndactyly - a distinctive overgrowth syndrome
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DOI：
10.1097/00019605-199710000-00001
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发表时间：
1997-10-01
影响因子：
0.7
通讯作者：
Donnai, D
中科院分区：
文献类型：
--
作者：
ClaytonSmith, J;Kerr, B;Donnai, D
我们描述了9个具有类似特征的儿童，包括大头畸形和先天性毛细血管扩张皮肤。所有患者出生时都很大，并有明显的毛细血管瘤累及中唇和上唇。幸存的7名患者均出现脑积水和发育迟缓。6例出现身体不对称，3例出现内动静脉畸形。第二、第三趾和/或第三、第四指或脚趾并指是常见病。所有病例都是零星的。这种情况很容易识别，在以过度生长和大头畸形为表现的患者的鉴别诊断中应予以考虑。
We describe nine children with a similar pattern of features including macrocephaly and cutis marmorata telangiectatica congenita. All were large at birth and had a distinctive capillary haemangioma involving the philtrum and upper lip. The seven who survived all developed hydrocephalus and had developmental delay. Six developed body asymmetry and three had internal arteriovenous malformations. Syndactyly of the second and third toes and/or the third and fourth fingers or toes was commonly seen. All of the cases were sporadic. This condition is easily recognizable and should be considered in the differential diagnosis of patients presenting with overgrowth and macrocephaly.