Recessive form of Freeman-Sheldon's syndrome or 'whistling face',.

AUTOR(ES)

Alves, A F

RESUMO

Freeman-Sheldon's syndrome is a rare genetic disease inherited as an autosomal dominant trait in some families but showing sporadic appearance in the majority of the reported cases. In the present paper we report a family having two affected children from normal consanguineous parents suggesting that Freeman-Sheldon's syndrome may be heterogeneous from the genetic point of view.

Documentos Relacionados

• Freeman-Sheldon (whistling face) syndrome in a Turner mosaic.
• Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance
• Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?
• Conduta anestésica em criança portadora da síndrome de Freeman-Sheldon
• Forma recessiva da síndrome de Freeman-Sheldon: relato de dois irmãos afetados