Cleft lip and cone-rod dystrophy in a consanguineous sibship

Clin Dysmorphol. 1996 Oct;5(4):307-11.

Abstract

Three siblings from a consanguineous marriage were found to have a cleft lip. Two of them developed a progressive retinopathy which was identified as a cone-rod dystrophy. It is suggested that this association may represent a hitherto unreported entity with an autosomal recessive pattern of inheritance, although chance co-occurrence cannot be excluded.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cleft Lip / genetics
  • Cleft Lip / pathology*
  • Consanguinity*
  • Female
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Male
  • Nuclear Family
  • Pedigree
  • Retinitis Pigmentosa / genetics
  • Retinitis Pigmentosa / pathology*