The microcephaly-capillary malformation syndrome

  • Am J Med Genet A. 2011 Sep;155A(9):2080-7. doi: 10.1002/ajmg.a.34118.
Ghayda M Mirzaa  1 ,  Alex R Paciorkowski ,  Christopher D Smyser ,  Marcia C Willing ,  Anne C Lind ,  William B Dobyns
Affiliations
  • 1. Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA. [email protected]
PMID: 21815250 DOI: 10.1002/ajmg.a.34118
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.