Apert Syndrome: Difference between revisions
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* Pathognomonic feature - severe & complex fusion of fingers & toes (complex syndactyly). | * Pathognomonic feature - severe & complex fusion of fingers & toes (complex syndactyly). | ||
* Craniofacial features: craniosynostosis, turribrachycephaly, hypertelorism, midfacial retrusion, cleft palate & down-slanted palpebral fissures. | * Craniofacial features: craniosynostosis, turribrachycephaly, hypertelorism, midfacial retrusion, cleft palate & down-slanted palpebral fissures. | ||
* May also have: cleft palate, progressive spinal fusion, midfacial hypoplasia, airway obstruction, ↑ ICP, Chiari Malformations, brain anomalies, developmental delay, ± ↓ intelligence | * May also have: cleft palate, progressive spinal fusion, midfacial hypoplasia, airway obstruction, ↑ ICP, [[Chiari Malformations]], brain anomalies, developmental delay, ± ↓ intelligence | ||
[[Category:Pediatric Neurosurgery]] | [[Category:Pediatric Neurosurgery]] | ||
[[Category:Cranial Development Abnormalities]] | [[Category:Cranial Development Abnormalities]] | ||
[[Category:Craniosynostosis]] | |||
Latest revision as of 22:00, 3 March 2024
Key features
- Caused by FGFR2 mutation, AD inherited
- Incidence ~1:65,000
- Bicoronal craniosynostosis, midfacial retrusion, exorbitism & severe hand/foot anomaly.
- Pathognomonic feature - severe & complex fusion of fingers & toes (complex syndactyly).
- Craniofacial features: craniosynostosis, turribrachycephaly, hypertelorism, midfacial retrusion, cleft palate & down-slanted palpebral fissures.
- May also have: cleft palate, progressive spinal fusion, midfacial hypoplasia, airway obstruction, ↑ ICP, Chiari Malformations, brain anomalies, developmental delay, ± ↓ intelligence