Article Text

Download PDFPDF
A previously undescribed syndrome of thoracic dysplasia and communicating hydrocephalus in two sibs, one diagnosed prenatally by ultrasound.
  1. R M Winter,
  2. S Campbell,
  3. J S Wigglesworth,
  4. E J Nevrkla

    Abstract

    We describe two opposite sexed sibs, the offspring of consanguineous Pakistani parents, with a previously undescribed syndrome. The main features are short ribs with a narrow chest and thoracic dysplasia, mild shortening of the limbs, communicating hydrocephalus, and developmental delay. One sib was diagnosed prenatally by ultrasound at 18 weeks' gestation. The inheritance of the condition is presumed to be autosomal recessive.

    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.