MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME

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 t he philtrum and upper lip. The seven who survived all developed hydroc ephalus and had developmental delay. Six developed body asymmetry and three had internal arteriovenous malformations. Syndactyly of the seco nd and third toes and/or the third and fourth fingers or toes was comm only seen. All of the cases were sporadic. This condition is easily re cognizable and should be considered in the differential diagnosis of p atients presenting with overgrowth and macrocephaly.