The microcephaly-capillary malformation syndrome

Ghayda M. Mirzaa, Alex R. Paciorkowski, Christopher D. Smyser, Marcia C. Willing, Anne C. Lind, William B. Dobyns

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2080-2087
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number9
DOIs
StatePublished - Sep 2011
Externally publishedYes

Keywords

  • Capillary malformations
  • Infantile spasms
  • Microcephaly with simplified gyri
  • Optic nerve hypoplasia

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