Lambdoidal synostosis in dizygotic twins with a family history of an undiagnosed connective tissue disorder

Childs Nerv Syst. 2014 Jun;30(6):1117-20. doi: 10.1007/s00381-013-2308-0. Epub 2013 Nov 6.

Abstract

Introduction: Unilateral lambdoidal craniosynostosis is a rare disorder that occurs in approximately 3 % of all craniosynostosis phenotypes and only 0.03 % of one million live births. It is even more unusual for this type of synostosis to occur in siblings with only two other cases reported in the literature.

Case report: We report a set of full-term dizygotic twins born with lambdoidal synostosis and a family history of connective tissue and cardiovascular anomalies. One of the twins also had concomitant bicoronal craniosynostosis.

Conclusion: True familial lambdoidal synostosis is exceedingly rare. The present cases in dizygotic twins occurred in a family with a significant history of connective tissue disease suggesting a possible association.

Publication types

  • Case Reports

MeSH terms

  • Connective Tissue Diseases / diagnosis
  • Connective Tissue Diseases / genetics
  • Craniosynostoses / genetics*
  • Craniosynostoses / pathology*
  • Craniosynostoses / surgery
  • Diseases in Twins
  • Family Health*
  • Female
  • Humans
  • Imaging, Three-Dimensional
  • Infant
  • Tomography Scanners, X-Ray Computed
  • Twins, Dizygotic*