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An autosomal dominant syndrome is described in 26 members of six generations in a single family. Distal extremity malformations are characteristic and superficially resemble those of arthrogryposis, chondroectodermal dysplasia, Cornelia de Lange syndrome, Faconi's anemia or Holt-Oram syndrome. There is an absence of spinal deformity, and females of the disorder have duplication of the genital tract.
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