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Freeman-Sheldon syndrome

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
Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally
Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally
Archives of Disease in Childhood
Archives of Neurology
Archives of Neurology

Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally
Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally
Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally
Archives of Neurology
Archives of Neurology
Archives of Neurology

Freeman-Sheldon Syndrome
Freeman-Sheldon Syndrome
Progressive neurological deterioration in a child with distal arthrogryposis and whistling face
Indian Pediatrics
Indian Pediatrics
Journal of Medical Genetics

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

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Edited by Aldo Campana, February 8, 2010