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Familial Occurrence of the Freeman-Sheldon Syndrome: Cranio-carpo-tarsal Dysplasia
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1971
Year
Down SyndromeDevelopmental AnomalyDevelopmental BiologyAutosomal Dominant TraitGenetic DisorderGeneticsCraniofacial AnomaliesWhistling FaceCranio-carpo-tarsal DisplasiaFreeman-sheldon SyndromeAbnormal DevelopmentMedicineCraniofacial DisorderNeurogenetics
Freeman and Sheldon syndrome known as "cranio-carpo-tarsal displasia" or "Whistling face" deformity is described in a mother and daughter. The inheritance suggests an autosomal dominant trait.