Work

The microcephaly‐capillary malformation syndrome

Year: 2011

Type: article

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.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.34118

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

Institutions: University of Chicago, University of Washington, Seattle Children's Research Institute, Washington University in St. Louis

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Institute of Neurological Disorders and Stroke