Recessive form of Freeman-Sheldon's syndrome or 'whistling face',.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D001763:Blepharoptosis / Q000235:genetics; D002648:Child; D003241:Consanguinity; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome