Cardiomyopathy with renal anomalies in two siblings: a new recessive syndrome?

Clin Dysmorphol. 2007 Jan;16(1):51-53. doi: 10.1097/MCD.0b013e328010caa9.

Abstract

We describe two male siblings affected by cardiomyopathy and genitourinary tract abnormalities. One of them also had dysgenesis of the corpus callosum. They were born to nonconsanguineous, phenotypically normal parents. This association appears to be a new entity and may suggest a new autosomal or X-linked recessive syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Agenesis of Corpus Callosum
  • Cardiomyopathies / genetics
  • Cardiomyopathies / pathology*
  • Chromosome Disorders / genetics
  • Chromosome Disorders / pathology*
  • Female
  • Genes, Recessive*
  • Genes, X-Linked
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities
  • Male
  • Nervous System Malformations / genetics
  • Nervous System Malformations / pathology*
  • Siblings
  • Syndrome
  • Urogenital Abnormalities / genetics
  • Urogenital Abnormalities / pathology*