Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation

Am J Med Genet A. 2017 Jan;173(1):274-279. doi: 10.1002/ajmg.a.38001. Epub 2016 Oct 24.

Abstract

We report the case of a developmentally appropriate infant male with a de novo unbalanced chromosome translocation involving bands 2q32.1 and 7p21.3. The child was noted to have metopic and bicoronal craniosynostosis with closely spaced eyes, turricephaly, and flattening of the forehead. © 2016 Wiley Periodicals, Inc.

Keywords: coronal; craniosynostosis; metopic; translocation.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 2*
  • Chromosomes, Human, Pair 7*
  • Comparative Genomic Hybridization
  • Craniosynostoses / diagnosis*
  • Craniosynostoses / genetics*
  • Facies
  • Genetic Association Studies*
  • Humans
  • Infant, Newborn
  • Male
  • Phenotype*
  • Sequence Analysis, DNA
  • Skull / abnormalities
  • Tomography, Spiral Computed
  • Translocation, Genetic*