CROUZON SYNDROME: PATHOGENESIS, CLINICAL MANIFESTATIONS AND RESULTS OF OWN CLINICAL OBSERVATION

Abstract

Crouzon syndrome is a rare genetic craniosynostosis syndrome characterized by the premature fusion of one or more cranial sutures, leading to distinctive craniofacial deformities. It is most commonly caused by autosomal dominant mutations in the FGFR2 (fibroblast growth factor receptor 2) gene, resulting in abnormal signaling pathways that regulate bone growth and differentiation. The pathogenic mechanism is based on accelerated osteogenesis of the cranial sutures, which restricts normal skull expansion and causes compensatory growth in other cranial regions. Clinically, Crouzon syndrome is manifested by craniosynostosis with brachycephaly or scaphocephaly, midface hypoplasia, shallow orbits with ocular proptosis, hypertelorism, and malocclusion. Neurological complications may include increased intracranial pressure, headaches, visual impairment due to optic nerve compression, and, in some cases, cognitive or developmental delays. Unlike some other craniosynostosis syndromes, limb abnormalities are typically absent, which is an important diagnostic feature. Diagnosis is based on clinical examination, radiological findings (computed tomography and magnetic resonance imaging of the skull and brain), and molecular genetic testing to confirm FGFR2 mutations. Management requires a multidisciplinary approach involving neurologists, neurosurgeons, maxillofacial surgeons, ophthalmologists, and geneticists. Early surgical intervention aimed at cranial decompression and correction of craniofacial deformities plays a crucial role in preventing neurological and ophthalmological complications and improving functional and cosmetic outcomes.