The Pena‐Shokeir syndrome: Report of nine Dutch cases

Authors:
  • JOJohn M. Opitz
    John M. Opitz
  • JRJames F. Reynolds
    James F. Reynolds

Abstract
We report on nine individuals with the Pena‐Shokeir syndrome. Clinical findings are compared with data on patients from the literature. Emphasis is made on genetic background, neuropathological findings, and (in two cases) on prenatal data. Possible pathogenetic mechanisms are discussed.

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