TY - JOUR
T1 - Variability of the Brachmann-de Lange syndrome
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
Y1 - 1993
N2 - 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.
AB - 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.
KW - Brachmann-de Lange syndrome
KW - clinical variability
KW - Cornelia de Lange
KW - mental retardation
KW - mild phenotype
KW - phenotypic heterogeneity
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U2 - 10.1002/ajmg.1320470708
DO - 10.1002/ajmg.1320470708
M3 - Article
C2 - 8291540
AN - SCOPUS:0027429308
VL - 47
SP - 977
EP - 982
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 7
ER -