Prenatal diagnosis of Apert syndrome

Fetal Diagn Ther. 2004 Mar-Apr;19(2):127-30. doi: 10.1159/000075135.

Abstract

Objective: The role of the human fibroblast growth factor receptor (FGFR) gene family in current prenatal diagnosis and management of craniosynostosis syndromes and skeletal dysplasias is discussed.

Method: We present the antenatal ultrasound findings, diagnosis, and management of 2 cases of Apert syndrome before and after molecular prenatal diagnosis was available.

Results and conclusion: Discovery of mutations in FGFR genes now allows the definitive antenatal diagnosis of Apert syndrome, other craniosynostosis syndromes, and skeletal dysplasias.

Publication types

  • Case Reports

MeSH terms

  • Acrocephalosyndactylia* / diagnostic imaging
  • Acrocephalosyndactylia* / genetics
  • Acrocephalosyndactylia* / pathology
  • Adult
  • Female
  • Fetal Diseases* / diagnostic imaging
  • Fetal Diseases* / genetics
  • Fetal Diseases* / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Mutation
  • Pregnancy
  • Receptors, Fibroblast Growth Factor / genetics
  • Ultrasonography, Prenatal / methods*

Substances

  • Receptors, Fibroblast Growth Factor