Pierre Robin syndrome occurring in two related sibships

Birth Defects Orig Artic Ser. 1971 Jun;7(7):67-71.

Abstract

Four children affected with Pierre Robin syndrome occurring in two related sibships are described. The fathers of these sibships are second cousins and both of them have deceased sibs with histories of respiratory or feeding difficulties or both, or cleft palate. Mode of inheritance suggested by these findings is autosomal dominant with variable expression and incomplete penetrance.

MeSH terms

  • Adult
  • Cephalometry
  • Child
  • Child, Preschool
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Male
  • Mandible
  • Pedigree
  • Pierre Robin Syndrome / genetics*