Craniofacial anomalies

Facial Plast Surg Clin North Am. 2014 Nov;22(4):523-48. doi: 10.1016/j.fsc.2014.08.002. Epub 2014 Nov 8.

Abstract

Craniosynostosis, in which 1 or more cranial sutures prematurely fuse, is associated with diverse environmental and genetic factors. Whereas isolated single-suture synostosis is usually sporadic and nonfamilial, FGFR mutations account for most cases of syndromic craniosynostosis. This article reviews the etiology and various clinical manifestations of the most common isolated and syndromic forms of craniosynostosis, and provides a brief overview of genetics. Past and present surgical management approaches and techniques are examined in depth. Outcomes data in the recent literature are reviewed, and controversies in the field and promising trends in craniofacial surgery discussed.

Keywords: Brachycephaly; Craniosynostosis; Dolichocephaly; FGFR mutations; Minimally invasive surgery; Plagiocephaly; Scaphocephaly; Trigonocephaly.

Publication types

  • Review
  • Video-Audio Media

MeSH terms

  • Child
  • Child, Preschool
  • Craniofacial Abnormalities / complications
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / surgery*
  • Craniosynostoses / complications
  • Craniosynostoses / diagnosis
  • Craniosynostoses / genetics
  • Craniosynostoses / surgery
  • Genetic Markers
  • Humans
  • Infant
  • Mutation
  • Perioperative Care
  • Plastic Surgery Procedures / methods*
  • Receptor Protein-Tyrosine Kinases / genetics
  • Syndrome

Substances

  • Genetic Markers
  • Receptor Protein-Tyrosine Kinases