The microcephaly-capillary malformation syndrome

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

doi:10.1002/ajmg.a.34118

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 journal › Article › peer-review

29 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 language	English (US)
Pages (from-to)	2080-2087
Number of pages	8
Journal	American Journal of Medical Genetics, Part A
Volume	155
Issue number	9
DOIs	https://doi.org/10.1002/ajmg.a.34118
State	Published - Sep 2011
Externally published	Yes

Keywords

Capillary malformations
Infantile spasms
Microcephaly with simplified gyri
Optic nerve hypoplasia

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10.1002/ajmg.a.34118

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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.",

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AU - Mirzaa, Ghayda M.

AU - Paciorkowski, Alex R.

AU - Smyser, Christopher D.

AU - Willing, Marcia C.

AU - Lind, Anne C.

AU - Dobyns, William B.

PY - 2011/9

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AB - 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.

KW - Capillary malformations

KW - Infantile spasms

KW - Microcephaly with simplified gyri

KW - Optic nerve hypoplasia

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UR - https://www.scopus.com/pages/publications/84860389027#tab=citedBy

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 9

ER -

The microcephaly-capillary malformation syndrome

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