Article
Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.
The Journal of craniofacial surgery - 1 Jan 2000
Kilcoyne Sarah, Potter Katherine Ruth, Gordon Zoe, Overton Sarah, Brockbank Sally, Jayamohan Jayaratnam, Magdum Shailendra, Smith Martin, Johnson David, Wall Steven, Wilkie Andrew O M
Abstract excerpt
BACKGROUND: Pfeiffer syndrome is associated with a genetic mutation of the FGFR2 (or more rarely, FGFR1) gene, and features the combination of craniosynostosis, midface hypoplasia, broad thumbs and broad great toes. Previous research has identified a wide spectrum of clinical phenotypes in patients with Pfeiffer syndrome. This study aimed to investigate the multifactorial considerations for speech, language,...
Topics
- Acrocephalosyndactylia
- Communication
- Humans
- Hydrocephalus
- Intracranial Hypertension
- Mutation
- Phenotype
- Receptor, Fibroblast Growth Factor, Type 2
- Retrospective Studies