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  • 1
    Digitale Medien
    Digitale Medien
    Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis (2005)
    Oxford, UK : Blackwell Science Ltd
    Child 31 (2005), S. 0 
    Details
    ISSN: 1365-2214
    Quelle: Blackwell Publishing Journal Backfiles 1879-2005
    Thema: Medizin , Psychologie
    Notizen: Background  Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable expressivity and age-related manifestations.Methods  We report two paediatric cases of NBCCS who presented initially with a non-specific phenotype.Results  In case 1, a diagnosis of NBCCS was possible only after the father was interviewed and found to present with two major criteria for the disease. Subsequent molecular testing confirmed the diagnosis. In case 2, molecular testing of the infant and his father had diagnostic value as neither satisfied fully the current diagnostic criteria for NBCCS.Conclusions  Presence of the few clinical manifestations of NBCCS that appear in infants, typically congenital malformations and skeletal abnormalities, should prompt clinicians to conduct in-person interviews with both parents. In general, paediatricians should refer both parents of infants who are suspected of having an inherited condition to clinical geneticists for expert examination, given the potential unreliability of reported medical history.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1111/j.1365-2214.2005.00514.x
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