Crouzon syndromeQ87.0
Synonym(s)
Dysostosis craniofacialis hereditaria
HistoryThis section has been translated automatically.
Crouzon, 1912
DefinitionThis section has been translated automatically.
Craniosynostosis with combination of acanthosis nigricans benigna, cranial anomalies, eye anomalies, hypoplasia of the upper jaw, inner ear hearing loss and mostly age-related intelligence (in contrast to Apert syndrome, which has an analogous mutation)
EtiopathogenesisThis section has been translated automatically.
Mutation on the long arm of chromosome 10 (10q26) with point mutation in the fibroblast growth receptor 2 (FGFR2) gene.
TherapyThis section has been translated automatically.
Symptomatic therapy through appropriate discipline. Dermatological therapy of acanthosis nigricans is in the background.
LiteratureThis section has been translated automatically.
- Heubruck D et al. (2005) Neurophysiological disturbances in Apert- and Crouzon syndrome. Mschr Pediatrics 153: 55-62