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Seckel's syndrome: a case report.
Di Blasi, S; Belvedere, M; Pintacuda, S; Di Blasi, U; Ferotti, N; Galante, S; Galante, D.
Afiliação
  • Di Blasi S; Department of Internal Medicine, University of Palermo Medical School, Italy.
J Med ; 24(1): 75-96, 1993.
Article em En | MEDLINE | ID: mdl-8501405
ABSTRACT
The authors describe a case similar to the complex syndrome described by Seckel (1960), "dwarf-headed dwarfism." This case differs from others previously reported because of slight hypophyseal hypoplasia with a slight reduction of human chorionic gonadotrophin (HCG) serum levels, and because of the parent's consanguinity (first cousins). A comparative critical examination was carried out on the 44 cases of Seckel's syndrome described in the literature. Only 19 of these cases appear to be comparable with Seckel's description, while the others are dubious, due to incomplete data. Some can be identified as ordinary cases of dwarfism with microcephaly or mental deficit. Until more precise and objective parameters are established, it would be advisable to refer to this particular form of dwarfism as "Virchow-Seckel type dwarf-headed dwarfism," in order to avoid using the more binding term "syndrome" and the misleading term "bird-headed."
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Escoliose / Anormalidades Múltiplas / Pé Torto Equinovaro / Nanismo / Cardiopatias Congênitas / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: J Med Ano de publicação: 1993 Tipo de documento: Article País de afiliação: Itália
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Escoliose / Anormalidades Múltiplas / Pé Torto Equinovaro / Nanismo / Cardiopatias Congênitas / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: J Med Ano de publicação: 1993 Tipo de documento: Article País de afiliação: Itália