The microcephaly-capillary malformation syndrome.

ABSTRACT: We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301-306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome.

SUBMITTER: Mirzaa GM 

PROVIDER: S-EPMC3428374 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature