RESUMO

Two unrelated patients with multiple ankyloses, pulmonary hypoplasia, and characteristic facies syndrome had definite evidence of severe spinal muscular atrophy of prenatal onset. In addition, there were specific changes in the adrenal cortex.

Assuntos

Anquilose/congênito , Artrogripose/diagnóstico , Pulmão/anormalidades , Atrofia Muscular/congênito , Artrogripose/patologia , Dorso , Feminino , Humanos , Recém-Nascido , Masculino , Músculos/patologia , Atrofia Muscular/patologia , Medula Espinal/patologia