Article Text

Download PDFPDF
An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.
  1. P R Scarbrough,
  2. K Huddleston,
  3. S C Finley


    Ambiguity of the external genitalia has been frequently documented in male patients classified as the Smith-Lemli-Opitz (SLO) syndrome. Four previous case reports suggest that in extreme cases of the SLO syndrome there may be complete lack of development of the male external genitalia even in the presence of a normal male 46,XY karyotype. We present an additional case of a phenotypically female infant with dysmorphic features compatible with SLO syndrome and a 46,XY chromosome complement.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.