Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity

Am J Med Genet. 1994 Nov 15;53(3):222-6. doi: 10.1002/ajmg.1320530305.

Abstract

Oblique facial clefts are rare and include types 2-6 of Tessier's classification. Here we report on 4 patients with oblique facial clefts and a strikingly similar facial appearance. The pattern of facial involvement, the presence of consanguinity in 3 of them, as well as the entire clinical picture, suggest a unique dysmorphogenetic process which could represent, in some instances, an oculomaxillofacial dysostosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / etiology
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Amniotic Band Syndrome / complications
  • Cleft Palate / etiology
  • Consanguinity
  • Craniofacial Dysostosis / classification
  • Eye Abnormalities / pathology*
  • Facial Bones / abnormalities*
  • Female
  • Genes, Recessive
  • Genetic Heterogeneity
  • Humans
  • Infant, Newborn
  • Male