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  1. Congenital bone malformations in patients with neurofibromatosis type 1 (NF1).

    Article - En anglais

    To address the prevalence of congenital bone malformations in neurofibromatosis type 1 (Nfl ; compared with Nfl bone anomalies and tumors), we studied the Nfl population of 135 children (70 boys, 65 girls) seen at the neurofibromatosis clinic, University of Catania, Italy, in the period 1990 through 1996.

    Twelve (8.8%) of the 135 children had congenital bone malformations :

    • unilateral or bilateral postaxial polydactyly type A (n=1) and type B (n=1), bilateral postaxial polydactyly type A in association with preaxial polydactyly type 1 (n=1) and bilateral preaxial polydactyly (n=1) ;

    • clynodactyly (n=1) ;

    • multiple segmentation anomalies of the vertebrae (n=6), and complex costovertebral anomalies (n=1).

    We found a higher frequency of polydactyly (2.9%) in comparison to that in the general population (0.014-0.12%) and in our national (0.027%) and regional (0.066%) population, and a higher frequency of vertebral (5.1%) and costovertebral (0.7%) malformations.

    This is the first study to state the overall prevalence of congenital bone malformations in an Nfl population.

    Interestingly, polydactyly (postaxial type) and Nfl was previously reported only once.

    Mots-clés Pascal : Neurofibromatose Recklinghausen, Association, Symptomatologie, Malformation, Congénital, Membre, Epidémiologie, Prévalence, Enfant, Homme, Radiographie, Exploration, Syndactylie, Polydactylie, Os, Système nerveux pathologie, Tumeur bénigne, Phacomatose, Peau pathologie, Maladie héréditaire, Système ostéoarticulaire pathologie, Main pathologie, Pied pathologie, Rachis pathologie, Dysostose, Maladie congénitale, Radiodiagnostic

    Mots-clés Pascal anglais : Neurofibromatosis Recklinghausen, Association, Symptomatology, Malformation, Congenital, Limb, Epidemiology, Prevalence, Child, Human, Radiography, Exploration, Syndactyly, Polydactyly, Bone, Nervous system diseases, Benign neoplasm, Phacomatosis, Skin disease, Genetic disease, Diseases of the osteoarticular system, Disease of the hand, Disease of the foot, Spine disease, Dysostosis, Congenital disease, Radiodiagnosis

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 99-0296499

    Code Inist : 002B15H. Création : 16/11/1999.