An Updated Pediatric Perspective on the Apert Syndrome

Ocular abnormalities in Apert syndrome: Genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations

“…4 In addition to bicoronal craniosynostosis, Apert syndrome is characterized by severe symmetric syndactyly of the hands and feet, mid-face hypoplasia, cleft palate, parrot-beak nose, low-set ears, severe acne, and various central nervous system malformations. 2,[5][6][7] Ocular features that have been reported in Apert syndrome include hypertelorism, exorbitism, downward lateral canthal dystopias, corneal ulcers, strabismus, ocular motility abnormalities, refractive error, papilledema, optic atrophy, and more 2,6,[8][9][10][11] (Figures 1-3). Amblyopia is a common cause of vision loss in these patients, and cases of sudden vision loss due to papilledema with no accompanying symptoms of intracranial hypertension have also been reported.…”

Apert syndrome Acrocephalosyndactyly: a case report

“…It is inherited with mutations of either Ser252Trp or Pro253Arg in fibroblast growth factor receptor 2 (FGFR2) on chromosome 10q25. [5][6][7] Apert syndrome both has craniosynostosis and syndactyly. The FGFR2 gene under goes point mutation that causes the syndrome in 98% of the patients.…”

Orthodontic Treatment in Combination with Le Fort II Bone Distraction in Patient with Apert Syndrome

“…Resulting from an autosomal dominant segregation pattern with a locus of a mutation at FGFR2 on chromosome 10q 8) , Apert syndrome is a congenital disease characterized by craniosynostosis and syndactyly 2) . Clinically, Apert syndrome is characterized by deformation of the skull, protrusion of the eyeballs, and midface hypoplasia 1,2,5,6) , while in the oral cavity, narrowing and crowding of the dentition, open bite, and anterior crossbite can also be observed.…”

“…Clinically, Apert syndrome is characterized by deformation of the skull, protrusion of the eyeballs, and midface hypoplasia 1,2,5,6) , while in the oral cavity, narrowing and crowding of the dentition, open bite, and anterior crossbite can also be observed.…”