RESUMO

Two non-inbred cases of Rubinstein-Taybi syndrome is two non-related sibships with a total of 16 sibs are reported. Clinical features are those classicaly reported. One of the patients (case 1) presents left post-axial polydactily and a history of hydramnion. The cariotype is normal in the other patient (case 2). Nothing is added in this paper as regards the etiology of the syndrome.

Assuntos

Anormalidades Múltiplas , Síndrome de Rubinstein-Taybi , Pré-Escolar , Dermatoglifia , Feminino , Humanos , Masculino , Síndrome de Rubinstein-Taybi/diagnóstico , Síndrome de Rubinstein-Taybi/genética