Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts

J Med Genet. 1990 May;27(5):330-2. doi: 10.1136/jmg.27.5.330.

Abstract

The observation of two new cases in a previously reported family has brought about a change in the delineation of the syndrome initially defined. To the abnormalities already described (branchial dysplasia, mental deficiency, club feet, inguinal herniae) must be added a paucity of interlobular bile duts; the relationship between this new syndrome and the Alagille syndrome requires reconsideration.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Biliary Atresia / complications
  • Biliary Atresia / genetics*
  • Foot Deformities, Congenital / complications
  • Foot Deformities, Congenital / genetics*
  • Genes, Recessive
  • Hernia, Inguinal / complications
  • Hernia, Inguinal / genetics*
  • Humans
  • Infant
  • Intellectual Disability
  • Male
  • Syndrome