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

doi:10.1002/ajmg.1320470708

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 journal › Article › peer-review

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 language	English
Pages (from-to)	977-982
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	47
Issue number	7
DOIs	https://doi.org/10.1002/ajmg.1320470708
Publication status	Published - 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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10.1002/ajmg.1320470708

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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

Selicorni, A, Lalatta, F, Livini, E, Briscioli, V, Piguzzi, T, Bagozzi, DC, 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, vol. 47, no. 7, pp. 977-982. https://doi.org/10.1002/ajmg.1320470708

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title = "Variability of the Brachmann-de Lange syndrome",

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.",

keywords = "Brachmann-de Lange syndrome, clinical variability, Cornelia de Lange, mental retardation, mild phenotype, phenotypic heterogeneity",

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

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doi = "10.1002/ajmg.1320470708",

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AU - Selicorni, A.

AU - Lalatta, F.

AU - Livini, E.

AU - Briscioli, V.

AU - Piguzzi, T.

AU - Bagozzi, D. C.

AU - Mastroiacovo, P.

AU - Zampino, G.

AU - Gaeta, G.

AU - Pugliese, A.

AU - Cerutti-Mainaroli, P.

AU - Guala, A.

AU - Zelante, L.

AU - Stabile, M.

AU - Belli, S.

AU - Franceschini, P.

AU - Gianotti, A.

AU - Scarano, G.

PY - 1993

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KW - Cornelia de Lange

KW - mental retardation

KW - mild phenotype

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Variability of the Brachmann-de Lange syndrome

Abstract

Keywords

ASJC Scopus subject areas

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