The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect.
Medical treatment of craniosynostosis: recombinant Noggin inhibits coronal suture closure in the rat craniosynostosis model.
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
Brain phenotypes in two FGFR2 mouse models for Apert syndrome.
Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.
Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice.
Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R).
Oral manifestations in Apert syndrome: case presentation and a brief review of the literature.
(80/135)BACKGROUND: The present paper describes the oral manifestations in a 16-year-old boy previously diagnosed with Apert syndrome. PATIENT AND METHODS: The extraoral and intraoral pathological findings were recorded. The following intraoral parameters were recorded: plaque and calculus deposits, dental caries, periodontal status, malpositions, and occlusion. For the upper anterior teeth, dental shade was recorded, using a dental spectrophotometer. The corresponding diagnostics were established. A treatment plan was established and discussed with the child's parents. RESULTS: The dysmorphic characters were obvious, including acrocephaly, prominent forehead, hypoplastic midface, hypertelorism, short nose. The intraoral features revealed a bifid uvula and Byzantine-arch palate associated with lateral swellings of the palatine processes, one on either side of the middle miming a pseudocleft in the midline. Heavy dental plaque, dental calculus, congestion and swelling of the gingiva and periodontal pseudopockets associated with anterior teeth were recorded. Dental caries on anterior and posterior teeth were present. Severe maxillary dental crowding associated with the rotation of central incisors and the palatal position of second bicuspids and the malposition of the mandibular anterior teeth were observed. No intrinsic discoloration of the dental structure was recorded. Severe anterior and posterior open bite and crossbite were observed. Other signs were represented by syndactyly involving partial fusion of the fingers and toes. Also, mild mental deficiency was recorded. CONCLUSIONS: The information and the strong motivation of the parents regarding the necessity of the treatment and the extensive use of home prevention methods are essential to control oral conditions in these patients. (+info)