Crouzon Syndrome: A Rare Case Report in Perimenopausal Women

Crouzon syndrome is the most common craniosynostosis syndrome as it represents approximately 4.8% of all craniosynostosis cases at birth. It is characterized by premature closure of one or more cranial sutures and produces the characteristic craniofacial and other associated abnormalities which begins in the first year of life. Described by a French neurosurgeon “Octave Crouzon” in 1912, it is rare genetic disorder, and its worldwide prevalence rate is approximately 1 per 25,000 live births. It is caused by mutation in fibroblast growth factor receptor 2 gene (FGFR 2) at chromosomal locus 10q 25.3 - q 26, and more than 30 different mutations within the gene have been documented in separate families. CS has no racial or sex predilection, however, coronal craniosynostosis is more common in girls. The clinical presentation varies in severity from a mild presentation with subtle midface deficiency to severe forms with multiple cranial sutures fused and marked midface and eye problems. Management of crouzon syndrome is complex and difficult. In this article, we present a case of 45 year old female patient of Crouzon syndrome who survived long without any treatment and presented with uterine leomyoma.