title: 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.
authors.affiliation: Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA. gmirzaa@bsd.uchicago
authors.forename: Ghayda M
authors.initials: GM
authors.lastname: Mirzaa
authors.forename: Alex R
authors.initials: AR
authors.lastname: Paciorkowski
authors.forename: Christopher D
authors.initials: CD
authors.lastname: Smyser
authors.forename: Marcia C
authors.initials: MC
authors.lastname: Willing
authors.forename: Anne C
authors.initials: AC
authors.lastname: Lind
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002196:Capillaries / Q000002:abnormalities*; D020405:Dermis / Q000098:blood supply*; D004827:Epilepsy; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D025962:Septo-Optic Dysplasia; D055815:Young Adult