caa a22 4500 475785282 CHVBK 20180406123656.0 cr unu---uuuuu 170329e20000201xx s 000 0 eng 10.1007/s004310050037 doi (NATIONALLICENCE)springer-10.1007/s004310050037 Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma [Elektronische Daten] [S. Sigaudy, G. Vittu, A. David, J. Vigneron, D. Lacombe, A. Moncla, E. Flori, N. Philip] Costello syndrome was first described in 1971. Besides papillomata, which were part of the initial description, patients tends to develop benign tumours of ectodermal origin. Aetiology is yet unknown but it is supposed to be the result of a sporadic dominant mutation. We report six patients with typical clinical findings and emphasise the importance of cardiac manifestations and the tendency to develop tumours. One patient developed an embryonal rhabdomyosarcoma, the occurrence of which has been reported twice before in patients with Costello syndrome. Conclusion There might be a causal link between the development of rare tumours and this genetic disorder which may provide a new clue concerning the identification of the gene involved in Costello syndrome. Springer-Verlag Berlin Heidelberg, 2000 Key words Costello syndrome nationallicence Growth retardation nationallicence Neoplasia nationallicence Rhabdomyosarcoma nationallicence Hypertrophic cardiomyopathy nationallicence Sigaudy S. Centre de Genetique Medicale, Hopital Timone Enfant, 13385 Marseilles cedex 5, France e-mail: nphilip@ap-hm.fr Tel.: +33-4-91-386734, Fax: +33-4-91-386973, FR aut Vittu G. Service de Neonatologie, Centre Hospitalier Feron-Vrau, Hopital Saint Antoine, Lille, France, FR aut David A. Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes, Nantes, France, FR aut Vigneron J. Consultation de Genetique, Maternite Regionale 'sA.Pinard', Nancy, France, FR aut Lacombe D. Groupe Hospitalier Pellegrin-Hopital d'enfants, Bordeaux, France, FR aut Moncla A. Centre de Genetique Medicale, Hopital Timone Enfant, 13385 Marseilles cedex 5, France e-mail: nphilip@ap-hm.fr Tel.: +33-4-91-386734, Fax: +33-4-91-386973, FR aut Flori E. Laboratoire de Cytogenetique, CHRU Hopital de Hautpierre, Strasbourg, France, FR aut Philip N. Centre de Genetique Medicale, Hopital Timone Enfant, 13385 Marseilles cedex 5, France e-mail: nphilip@ap-hm.fr Tel.: +33-4-91-386734, Fax: +33-4-91-386973, FR aut https://doi.org/10.1007/s004310050037 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s004310050037 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sigaudy S. Centre de Genetique Medicale, Hopital Timone Enfant, 13385 Marseilles cedex 5, France e-mail: nphilip@ap-hm.fr Tel.: +33-4-91-386734, Fax: +33-4-91-386973, FR aut NATIONALLICENCE 700 1- Vittu G. Service de Neonatologie, Centre Hospitalier Feron-Vrau, Hopital Saint Antoine, Lille, France, FR aut NATIONALLICENCE 700 1- David A. Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes, Nantes, France, FR aut NATIONALLICENCE 700 1- Vigneron J. Consultation de Genetique, Maternite Regionale 'sA.Pinard', Nancy, France, FR aut NATIONALLICENCE 700 1- Lacombe D. Groupe Hospitalier Pellegrin-Hopital d'enfants, Bordeaux, France, FR aut NATIONALLICENCE 700 1- Moncla A. Centre de Genetique Medicale, Hopital Timone Enfant, 13385 Marseilles cedex 5, France e-mail: nphilip@ap-hm.fr Tel.: +33-4-91-386734, Fax: +33-4-91-386973, FR aut NATIONALLICENCE 700 1- Flori E. Laboratoire de Cytogenetique, CHRU Hopital de Hautpierre, Strasbourg, France, FR aut NATIONALLICENCE 700 1- Philip N. Centre de Genetique Medicale, Hopital Timone Enfant, 13385 Marseilles cedex 5, France e-mail: nphilip@ap-hm.fr Tel.: +33-4-91-386734, Fax: +33-4-91-386973, FR aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer