Crouzon syndrome: features of clinical manifestations, management and outcomes in children

Abstract

   Syndromic craniosynostosis is a special group of hereditary pathologies. One of the syndromic craniosynostoses is Crouzon syndrome, an autosomal dominant pathology of the primary violation of the fusion of cranial sutures. It occurs with a frequency of 1:60,000 newborns. The disease leads to a number of secondary complications, such as exophthalmos, orthognathic problems, impaired vision, hearing, breathing, lag in neuropsychic development. The development of Crouzon syndrome is associated with a missense mutation in the fibroblast growth factor receptor-2 (FGFR2) gene. In modern medicine, a variant of Crouzon syndrome with black acanthosis is also known, the development of which is associated with a mutation in the FGFR3 gene. The similarity of clinical manifestations as with others syndromic craniosynostoses, also between 2 variants of Crouzon syndrome, leads to difficulties in differential diagnostic search. Knowledge and awareness of the full clinical presentation of this syndrome makes it possible to timely diagnose and treat, prevent possible severe complications and improve the quality of life of patients with Crouzon syndrome. This article describes 2 clinical cases with mutations in the FGFR2 and FGFR3 genes.