title: Apert syndrome: temporal lobe abnormalities on fetal brain imaging.
abstract: OBJECTIVE
  Apert syndrome is characterized by craniosynostosis and complex hand and foot syndactyly, and an increased risk of brain, palate, heart, and visceral malformations, and intellectual disability. This study aims to describe the structural brain abnormalities detected by dedicated neuroimaging of fetuses with Apert syndrome.
  
  
  METHODS
  Retrospective review of ultrasound and magnetic resonance imaging brain imaging obtained in six fetuses with a diagnosis of Apert syndrome.
  
  
  RESULTS
  Five fetuses had attenuation of the septal leaflets, and two had corpus callosum dysgenesis. All six had temporal lobe expansion and overconvolution and temporal lobe clefts. The temporal lobe abnormalities preceded the development of cranial deformity in two fetuses.
  
  
  CONCLUSIONS
  Overexpansion and overconvolution of the temporal lobe is evident antenatally and is particularly conspicuous in the fetus when the normal brain is still relatively smooth (approximately 24 to 28 weeks of gestation).
authors.affiliation: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Fetal Medicine Unit, Royal Women's Hospital, Melbourne, Australia; Maternal Fetal Medicine, Sunshine Hospital, Western Health, Melbourne, Australia.
authors.forename: Zornitza
authors.initials: Z
authors.lastname: Stark
authors.forename: George
authors.initials: G
authors.lastname: McGillivray
authors.forename: Amanda
authors.initials: A
authors.lastname: Sampson
authors.forename: Ricardo
authors.initials: R
authors.lastname: Palma-Dias
authors.forename: Andrew
authors.initials: A
authors.lastname: Edwards
authors.forename: Joanne M
authors.initials: JM
authors.lastname: Said
authors.forename: Gillian
authors.initials: G
authors.lastname: Whiteley
authors.forename: A Michelle
authors.initials: AM
authors.lastname: Fink
mesh_terms: D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D012189:Retrospective Studies; D013702:Temporal Lobe / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal