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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,...

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Identifiers

PMID: 33074973
DOI: 10.1097/SCS.0000000000007153

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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