Apert syndrome with fused thalami
Kathrin Ludwig1, Roberto Salmaso, Renzo Manara
1Pathology Unit, Department of Medical Diagnostic Sciences & Special Therapies, Padova, Italy.
Fetal and Pediatric Pathology
|March 27, 2012
Summary
Apert syndrome, a genetic disorder causing craniosynostosis and syndactyly, can present with rare brain abnormalities. This case highlights a fetus with Apert syndrome and fused thalami, a previously unreported central nervous system finding.
Area of Science:
- Genetics
- Developmental Biology
- Neurology
Background:
- Apert syndrome (Acrocephalosyndactyly type I) is a rare autosomal dominant disorder.
- It is characterized by craniosynostosis, midface hypoplasia, and syndactyly of digits.
- Associated congenital anomalies frequently involve multiple organ systems, including the central nervous system.
Observation:
- This report details a fetus with molecularly confirmed Apert syndrome.
- The fetus presented with an additional, previously unreported central nervous system anomaly: fusion of the thalamic nuclei.
- This finding is distinct from other reported central nervous system malformations in Apert syndrome.
Findings:
- Molecular confirmation of Apert syndrome in the fetus.
- Identification of fused thalami, a novel observation in Apert syndrome.
- Highlights the spectrum of central nervous system involvement in this genetic disorder.
Implications:
- Expands the known spectrum of central nervous system anomalies associated with Apert syndrome.
- Suggests that thalamic fusion may be a rare but possible manifestation of Apert syndrome.
- Underscores the importance of detailed neuroimaging in patients with Apert syndrome to identify potentially undocumented anomalies.
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