Article Text

PDF

Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.
  1. N J Shaw,
  2. D Haigh,
  3. G T Lealmann,
  4. G Karbani,
  5. J T Brocklebank,
  6. M J Dillon
  1. Department of Paediatrics and Child Health, St James's University Hospital, Leeds.

    Abstract

    Four children (two boys and two girls) with hypoparathyroidism, renal insufficiency, and developmental delay are described. They were the products of consanguineous marriages in three related Asian families presenting over a six year period. All the children died within the first 15 months of life despite treatment. Postmortem examination on one child showed absent parathyroid glands. We believe these children represent a previously undescribed syndrome that appears to be inherited in an autosomal recessive manner.

    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.