Association of distinct craniofacial features in nonsyndromic cleft lip and palate family members

Marja R. Perkiomaki, Young Jooh Yoon, Ross H. Tallents, Ingrid Barillas, Roberto Herrera-Guido, Mark E. Moss, Chin To Fong, Stephanos Kyrkanides

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Objective: To assess the relationship of distinct craniofacial features among family members with cleft lip and palate (CLP). Methods: Lateral cephalometric and anthropometric measurements of the members of 28 Costa Rican families with CLP were analyzed. The distinct craniofacial features in subjects with CLP were identified by comparing their craniofacial measurements with published normative values. The presence of these features was assessed in the unaffected family members. Regression coefficients were computed to evaluate the association of the distinct craniofacial measurements between parents and their offspring with and without CLP. Results: The male and female subjects with CLP were characterized by shortened head (HL), anterior cranial base (S-N), and palatal length (ANS-PNS, A-PNS) measurements as well as hyperdivergent angle of S-N plane to palatal plane (<SN-PP). All unaffected family members also had shortened S-N and ANS-PNS measurements and mothers of affected daughters also shortened HL. Mothers had a significant association in S-N, ANS-PNS, and <SN-PP measurements with their affected daughters (p < .05 for all), and fathers had a significant association in A-PNS measurement with their affected sons (p < .05). None of the associations of the distinct craniofacial measurements were significant between mothers and their unaffected daughters or between fathers and their unaffected sons. Conclusion: Unaffected family members of subjects with CLP also have some distinct craniofacial features, however in lesser degree. Mothers contribute more to their affected daughters' and fathers to their affected sons' distinct craniofacial morphology.

Original languageEnglish
Pages (from-to)397-402
Number of pages6
JournalCleft Palate-Craniofacial Journal
Issue number4
StatePublished - Jul 2003


  • Anomalies
  • Cephalometrics
  • Cleft lip and/or palate
  • Craniofacial
  • Genetics

ASJC Scopus subject areas

  • Oral Surgery
  • Otorhinolaryngology


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