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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

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The microcephaly-capillary malformation syndrome.

Mirzaa Ghayda M GM Paciorkowski Alex R AR Smyser Christopher D CD Willing Marcia C MC Lind Anne C AC Dobyns William B WB

American journal of medical genetics. Part A 20110803 9

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. ...[more]

PMID: 21815250

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