Article Text

PDF

Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.
  1. A Raas-Rothschild,
  2. R M Goodman,
  3. S Meyer,
  4. M B Katznelson,
  5. S T Winter,
  6. E Gross,
  7. M Tamarkin,
  8. T Ben-Ami,
  9. L Nebel,
  10. S Mashiach
  1. Department of Medical Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.

    Abstract

    A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.

    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.

    Linked Articles