Freeman-Sheldon syndrome

Developmental and genetic diseases

Google OMIM Orphanet PubMed Wikipedia [Arthrogryposis, distal]

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