title: Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes.
abstract: Apert and Pfeiffer syndromes are hereditary forms of craniosynostosis characterized by midfacial hypoplasia and malformations of the limbs and skull. A serious consequence of midfacial hypoplasia in these syndromes is respiratory compromise due to airway obstruction. In this study, we have evaluated Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of these human conditions to study the pathogenesis of midfacial hypoplasia. Our histologic and micro-CT evaluation revealed premature synostosis of the premaxillary-maxillary, nasal-frontal, and maxillary-palatine sutures of the face and dysplasia of the premaxilla, maxilla, and palatine bones. These midfacial abnormalities were detected in the absence of premature ossification of the cranial base at postnatal day 0. Our results indicate that midfacial hypoplasia is not secondary to premature cranial base ossification but rather primary synostosis of facial sutures. Birth Defects Research (Part A), 2011.
authors.affiliation: Department of Oral Biology, University of Washington, Seattle, USA.
authors.forename: Roopa
authors.initials: R
authors.lastname: Purushothaman
authors.forename: Timothy C
authors.initials: TC
authors.lastname: Cox
authors.forename: A Murat
authors.initials: AM
authors.lastname: Maga
authors.forename: Michael L
authors.initials: ML
authors.lastname: Cunningham
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D003398:Craniosynostoses / Q000235:genetics* / Q000378:metabolism; D004195:Disease Models, Animal; D005145:Face / Q000473:pathology; D005260:Female; D008297:Male; D008437:Maxilla / Q000473:pathology; D051379:Mice; D010012:Osteogenesis; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D019291:Skull Base / Q000473:pathology
chemical_list: C496349:Fgfr1 protein, mouse; C496354:Fgfr2 protein, mouse; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2