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Chondrodysplasia Punctata (Cdp) Conradi-Hunermann-Happle Type (Cdpx2)

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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

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Abstract

Punctate epiphyses are small calcifications in cartilaginous epiphysis or in certain other cartilaginous structures, such as the larynx and vertebrae (Spranger et al. 2002). These lesions appear initially during infancy or prenatally in some patients and usually disappear by 3–5 years of age (Basbug et al. 2005, Brookhyser et al. 1999, Duff et al. 1990, Gray et al. 1990, Mayden et al. 1996). A certain group of chondrodysplasias in which the puncta are a consistent and important part of the manifestations of the disease have been considered as Chondrodysplasia punctata (CDP) in the in-ternational nomenclature and classification of the osteochondrodysplasias (Lachman 1998) (Table 1).

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Authors and Affiliations

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

    Martino Ruggieri

  2. Department of Paediatrics, University of Catania, Catania, Italy

    Martino Ruggieri

  3. Paediatric Neurology Service, University Hospital La Paz, University of Madrid, Madrid, Spain

    Ignacio Pascual-Castroviejo

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  1. Martino Ruggieri
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  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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Ruggieri, M., Pascual-Castroviejo, I. (2008). Chondrodysplasia Punctata (Cdp) Conradi-Hunermann-Happle Type (Cdpx2). 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_38

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