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Recessive form of Freeman-Sheldon's syndrome or 'whistling face',
Journal of Medical Genetics
|April 1, 1977
Abstract:
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.