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The microcephaly‐capillary malformation syndrome
Author(s) -
Mirzaa Ghayda M.,
Paciorkowski Alex R.,
Smyser Christopher D.,
Willing Marcia C.,
Lind Anne C.,
Dobyns William B.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34118
Subject(s) - microcephaly , pediatrics , medicine , intractable epilepsy , sister , epilepsy , brother , psychiatry , sociology , anthropology
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. © 2011 Wiley‐Liss, Inc.