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Freeman-Sheldon syndrome

*Gene map locus 17p13.1
Arthrogryposis, distal, type 2A
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
DA2A
FSS
Whistling face syndrome
Whistling face-windmill vane hand syndrome
[Clinical features: whistling face with a long philtrum; puckered mouth; microstomia; H-shaped chin dimple; joint contractures; camptodactyly; ulnar deviation; equinovarus; kyphoscoliosis]
[Inheritance: autosomal dominant]

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Whistle blowing in clinical diagnosis
Whistle blowing in clinical diagnosis
Whistle blowing in clinical diagnosis
Archives of Disease in Childhood
Archives of Disease in Childhood
Archives of Disease in Childhood

Whistle blowing in clinical diagnosis
Freeman-Sheldon Syndrome
Freeman-Sheldon Syndrome
Archives of Disease in Childhood
Indian Pediatrics
Indian Pediatrics

Progressive neurological deterioration in a child with distal arthrogryposis and whistling face
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face
Journal of Medical Genetics
Journal of Medical Genetics
Journal of Medical Genetics

Freeman-Sheldon syndrome with cerebral venous thrombosis: is it a coincidence?
Freeman-Sheldon syndrome with cerebral venous thrombosis: is it a coincidence?
Freeman-Sheldon syndrome with cerebral venous thrombosis: is it a coincidence?
Journal of Postgraduate Medicine
Journal of Postgraduate Medicine
Journal of Postgraduate Medicine

Craniocarpotarsal dysplasia
Craniocarpotarsal dysplasia
Clinical Characteristics and Natural History of Freeman-Sheldon Syndrome
Neuroneonatology
Neuroneonatology
Pediatrics

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Edited by Aldo Campana, April 16, 2014