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Apert syndrome: temporal lobe abnormalities on fetal brain imaging
Zornitza Stark1, George McGillivray, Amanda Sampson
1Victorian 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.
Prenatal Diagnosis
|October 10, 2014
Summary
Apert syndrome (AS) is linked to brain abnormalities. Fetal neuroimaging reveals temporal lobe overexpansion and overconvolution, detectable early in gestation, even before cranial deformities appear.
Area of Science:
- Medical Genetics
- Developmental Biology
- Neuroimaging
Background:
- Apert syndrome (AS) is a genetic disorder characterized by craniosynostosis and syndactyly.
- Individuals with AS have an increased risk of brain, palate, heart, and visceral malformations, and intellectual disability.
Purpose of the Study:
- To describe structural brain abnormalities in fetuses diagnosed with Apert syndrome using advanced neuroimaging techniques.
Main Methods:
- Retrospective analysis of fetal brain imaging data.
- Inclusion of ultrasound and magnetic resonance imaging (MRI) scans from six fetuses with Apert syndrome.
Main Results:
- All six fetuses exhibited temporal lobe expansion and overconvolution.
- Temporal lobe clefts were observed in all cases.
- Associated findings included septal leaflet attenuation (5/6) and corpus callosum dysgenesis (2/6).
- Temporal lobe abnormalities were noted to precede cranial deformity in two fetuses.
Conclusions:
- Antenatal overexpansion and overconvolution of the temporal lobe are significant findings in Apert syndrome.
- These temporal lobe abnormalities are conspicuous in fetal development, particularly between 24-28 weeks of gestation, when the fetal brain is typically smoother.
