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Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation)

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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

Abstract

This recently recognised entity (OMIM # 602501) (OMIM 2006) is characterised by the association of macrocephaly (megalencephaly), capillary malformation of the cutis marmorata telangectatica congenita type, cavernous haemangioma, asymmetric growth pattern, central nervous system malformations, and neurological abnormalities (Clayton-Smith et al. 1997, Gerritsen et al. 2000, Moore et al. 1997, Lapunzina et al. 2004). Despite extensive investigation of many of affected cases, no specific cause for the condition has yet been identified (Lapunzina et al. 2004).

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Author information

Authors and Affiliations

  1. Department of Genetics, University Hospital La Paz, University of Madrid, Paseo de la Castellana, 261, 28046, Madrid, Spain

    Pablo Lapunzina MD

  2. Academic Department of Medical Genetics, St. Mary’s Hospital for Women & Children, Oxford Road 13 9WL, Manchester, United Kindom

    Jill Clayton-Smith MBChB, FRCP, FRCPCH,MD

Authors
  1. Pablo Lapunzina MD
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  2. Jill Clayton-Smith MBChB, FRCP, FRCPCH,MD
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Editor information

Editors and Affiliations

  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

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Lapunzina, P., Clayton-Smith, J. (2008). Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation). In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_12

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  • DOI: https://doi.org/10.1007/978-3-211-69500-5_12

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-21396-4

  • Online ISBN: 978-3-211-69500-5

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