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Craniofacial anomalies in twins.

C F Keusch1, J B Mulliken, L C Kaplan

  • 1Harvard Medical School, Boston, Mass.

Plastic and Reconstructive Surgery
|January 1, 1991
PubMed
Summary

Twin studies reveal genetic and environmental influences on congenital craniofacial deformities. Monozygotic twins showed a 33% concordance rate for these anomalies, while dizygotic twins had a 7% rate.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Craniofacial Surgery

Background:

  • Twin studies are crucial for dissecting genetic versus environmental contributions to congenital anomalies.
  • Congenital craniofacial deformities encompass a wide spectrum of structural anomalies affecting the head and face.

Purpose of the Study:

  • To investigate the concordance rates of congenital craniofacial deformities in monozygotic and dizygotic twins.
  • To analyze the types of craniofacial anomalies observed in affected twin pairs.

Main Methods:

  • Retrospective analysis of 35 affected twin pairs from 1114 patients with craniofacial deformities (1972-1989).
  • Assessment of dysmorphic characteristics, zygosity, concordance, and family history.
  • Categorization of anomalies into malformations and deformations.

Main Results:

  • 33% concordance in monozygotic twins versus 7% in dizygotic twins.
  • Identified 21 monozygotic and 14 dizygotic twin pairs.
  • Common malformations included hemifacial microsomia and cleft lip/palate; plagiocephaly was the most frequent deformation.

Conclusions:

  • Findings suggest a significant genetic component in the etiology of craniofacial anomalies, with higher concordance in monozygotic twins.
  • Environmental factors also play a role, as indicated by incomplete concordance in monozygotic twins.
  • Further research is warranted to elucidate specific genetic and environmental interactions.

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