The microcephaly‐capillary malformation syndrome | Zendy

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

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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.

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