Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate

Am J Dis Child. 1982 Jul;136(7):594-7. doi: 10.1001/archpedi.1982.03970430026007.

Abstract

The inheritance of Robinow's syndrome has been thought to be autosomal dominant. However, since no cases of male-to-male transmission have been reported, it has been impossible to rule out X-linked dominant inheritance. We studied a case of male-to-male transmission in a father and son with Robinow's syndrome and cleft lip-cleft palate, confirming autosomal dominant inheritance in at least some cases.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Fingers / abnormalities
  • Genes, Dominant
  • Humans
  • Infant
  • Male
  • Pedigree
  • Skull / abnormalities*
  • Syndrome