RESUMO
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.
Assuntos
Síndrome de Cornélia de Lange/classificação , Adolescente , Adulto , Criança , Pré-Escolar , Síndrome de Cornélia de Lange/diagnóstico , Síndrome de Cornélia de Lange/genética , Face/anormalidades , Feminino , Transtornos do Crescimento/genética , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/genética , Deformidades Congênitas dos Membros , Masculino , Fenótipo , Transtornos Psicomotores/genéticaRESUMO
We report a case of fetal hydrops at 32 weeks of gestation, diagnosed prenatally due to an unusual form of non-Ebstein dysplasia of the tricuspid valve and of the right ventricle, different from the classification used in the literature. Digoxin therapy, administered for two weeks in utero and then after the premature delivery, did not improve the massive right heart failure due to the tricuspid insufficiency, and the baby died at 4 days of life.