Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy

Am J Med Genet. 1983 Sep;16(1):99-104. doi: 10.1002/ajmg.1320160115.

Abstract

Two brothers were found to have an unusual congenital syndrome of lymphedema, pulmonary lymphagiectasia, hypoparthyroidism, hereditary nephropathy, prolapsing mitral valve, and other somatic abnormalities.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Female
  • Fingers / abnormalities
  • Genes, Recessive
  • Genetic Linkage
  • Humans
  • Hypoparathyroidism / genetics*
  • Kidney Diseases / genetics*
  • Lymphedema / genetics*
  • Male
  • Mitral Valve Prolapse / genetics*
  • Pedigree
  • Syndrome
  • X Chromosome