Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.

@article{ClaytonSmith1997MacrocephalyWC,
  title={Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.},
  author={Jill Clayton-Smith and Bronwyn A. Kerr and Han G. Brunner and Lisbeth Tranebjaerg and Alan G. Magee and Raoul C Hennekam and Robert F. Mueller and Louise Brueton and Maurice Super and Jon Steen-johnsen and Dian Donnai},
  journal={Clinical dysmorphology},
  year={1997},
  volume={6 4},
  pages={291-302}
}
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… CONTINUE READING