The thoracoabdominal syndrome (TAS): a new X-linked dominant disorder

Am J Med Genet. 1990 May;36(1):109-14. doi: 10.1002/ajmg.1320360122.

Abstract

We report on a family with a previously undescribed malformation syndrome. The syndrome is composed of diaphragmatic and ventral herniae, hypoplastic lung, and associated cardiac anomalies. The relative number of affected males and females and appreciably severer manifestations in males suggest an X-linked dominant inheritance.

MeSH terms

  • Abdominal Muscles / abnormalities*
  • Abnormalities, Multiple / genetics*
  • Female
  • Genes, Dominant
  • Genetic Linkage*
  • Hernia, Diaphragmatic / genetics
  • Hernias, Diaphragmatic, Congenital
  • Humans
  • Lung / abnormalities
  • Male
  • Pedigree
  • Syndrome
  • Thorax / abnormalities*
  • X Chromosome*