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Keywords:

  • XY gonadal dysgenesis;
  • sex reversal;
  • cerebellar atrophy;
  • pontocerebellar hypoplasia;
  • intellectual disability

Abstract

We report on a 46,XY female with pontocerebellar hypoplasia and intellectual disability. To our knowledge, this is the fourth reported patient with this constellation and further confirms a rare new syndrome. The condition is probably a single gene disorder with a currently unknown mode of inheritance. The causative gene is likely involved in the normal gonadal sex determination as well as the cerebral and cerebellar formation and function. © 2013 Wiley Periodicals, Inc.