Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

Authors

  • Víctor Martínez-Glez,

    Corresponding author
    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain
    2. Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain
    • Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain.
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  • Valeria Romanelli,

    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain
    2. Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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  • María A. Mori,

    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain
    2. Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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  • Ricardo Gracia,

    1. Pediatric Endocrinology Service, Hospital Universitario La Paz, Madrid, Spain
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  • Mabel Segovia,

    1. CENAGEM-ANLIS, Buenos Aires, Argentina
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  • Antonio González-Meneses,

    1. Unidad de Dismorfología, Hospital Virgen del Rocío, Sevilla, Spain
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  • Juan C. López-Gutierrez,

    1. Unit of Vascular and Plastic Surgery, Department of Surgery, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain
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  • Esther Gean,

    1. Department of Medical and molecular Genetics, Hospital Sant Joan de Déu, Barcelona, Spain
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  • Loreto Martorell,

    1. Department of Medical and molecular Genetics, Hospital Sant Joan de Déu, Barcelona, Spain
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  • Pablo Lapunzina

    1. Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain
    2. Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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  • How to Cite this Article: Martínez-Glez V, Romanelli V, Mori MA, Gracia R, Segovia M, González-Meneses A, López-Gutierrez JC, Gean E, Martorell L, Lapunzina P. 2010. Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria. Am J Med Genet Part A 152A:3101–3106.

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. © 2010 Wiley-Liss, Inc.

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