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

1977; BMJ; Volume: 14; Issue: 2 Linguagem: Inglês

10.1136/jmg.14.2.139

1468-6244

Alicia Alves, E S Azevêdo,

Neurogenetic and Muscular Disorders Research

Freeman-Sheldon9s 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-Sheldon9s syndrome may be heterogeneous from the genetic point of view.