You are here

  • Home
  • Archive
  • Volume 12, Issue 3
  • A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.

Article Text

Article menu
Download PDFPDF
Research Article
A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.
  1. N Freire-Maia,
  2. V A Fortes,
  3. L C Pereira,
  4. J M Opitz,
  5. F A Marcalle,
  6. I J Cavalli

    Abstract

    This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.

    https://doi.org/10.1136/jmg.12.3.308

    Statistics from Altmetric.com

      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.