Variability of the Brachmann-de Lange syndrome

A. Selicorni, F. Lalatta, E. Livini, V. Briscioli, T. Piguzzi, D. C. Bagozzi, P. Mastroiacovo, G. Zampino, G. Gaeta, A. Pugliese, P. Cerutti-Mainaroli, A. Guala, L. Zelante, M. Stabile, S. Belli, P. Franceschini, A. Gianotti, G. Scarano

Research output: Contribution to journalArticle

Abstract

Brachmann-de Lange syndrome (BDLS) is a relatively common multiple congenital anomaly/mental retardation syndrome, whose cause is unknown. The clinical variability of this condition is well-known. Recently some reports suggested the possible existence of a mild BDLS phenotype. We report on 30 patients in whom a diagnosis of BDLS was made or strongly suspected in 12 different Italian hospitals. Based on clinical evaluation we divided them into two groups, classical and mild BDLS cases. We compare the clinical data of these patients and we discuss the problems which arise in trying to define clear criteria of distinction between these two groups.

Original languageEnglish
Pages (from-to)977-982
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume47
Issue number7
DOIs
Publication statusPublished - 1993

Keywords

  • Brachmann-de Lange syndrome
  • clinical variability
  • Cornelia de Lange
  • mental retardation
  • mild phenotype
  • phenotypic heterogeneity

ASJC Scopus subject areas

  • Genetics(clinical)

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    Selicorni, A., Lalatta, F., Livini, E., Briscioli, V., Piguzzi, T., Bagozzi, D. C., Mastroiacovo, P., Zampino, G., Gaeta, G., Pugliese, A., Cerutti-Mainaroli, P., Guala, A., Zelante, L., Stabile, M., Belli, S., Franceschini, P., Gianotti, A., & Scarano, G. (1993). Variability of the Brachmann-de Lange syndrome. American Journal of Medical Genetics, 47(7), 977-982. https://doi.org/10.1002/ajmg.1320470708