1. Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria
- Author
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Esther Gean, Loreto Martorell, Pablo Lapunzina, María A. Mori, Valeria Romanelli, Mabel Segovia, Ricardo Gracia, Antonio González-Meneses, Victor Martinez-Glez, and Juan Carlos López-Gutiérrez
- Subjects
Genetic Markers ,Male ,medicine.medical_specialty ,Capillary malformation ,Adolescent ,DNA Copy Number Variations ,Genotype ,Port-Wine Stain ,Skin Diseases, Vascular ,Neuroimaging ,Gene Frequency ,Genetics ,Medicine ,Humans ,Abnormalities, Multiple ,Copy-number variation ,Telangiectasis ,Child ,Genetics (clinical) ,Livedo Reticularis ,business.industry ,Macrocephaly ,Syndrome ,medicine.disease ,Megalencephaly ,Capillaries ,Macrocephaly-capillary malformation ,Overgrowth syndrome ,Child, Preschool ,Reticular connective tissue ,Etiology ,Radiology ,medicine.symptom ,business - Abstract
Macrocephaly-capillary malformation (M-CM) is a genetic syndrome of unknown etiology characterized by an enlarged head circumference and patchy, reticular capillary malformation. We describe the clinical features of 13 cases, report on the genome-wide Copy Number Variation characterization of these patients, analyze the main clinical features of this syndrome and propose a modification of the current diagnostic criteria: the inclusion of both overgrowth/asymmetry and neuroimaging alterations as major criteria.
- Published
- 2010