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An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported.




Arthrogryposis, distal, type 8
Multiple pterygium syndrome, autosomal dominant
Pterygium syndrome, multiple, autosomal dominant


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