Severe Proptosis in a Newborn with Genetically Confirmed Crouzon Syndrome

Authors: Kumud Pahwa, Dinkar Yadav, Neha Yadav, Geeta Gathwala, Hunny Verma, Kapil Bhalla

DOI: 10.18231/j.ijceo.7632.1761971193

Keywords: Proptosis, Craniosynostosis, Genetic Analysis, Craniofacial abnormality

Abstract: Crouzon syndrome is a rare condition with autosomal dominant inheritance. It is characterized by premature fusion of coronal and saggital suture. Very few reported cases till now and a prevalence of 1 in 25000 live births. It is characterized by a clinical triad of skull deformities, facial anomalies and proptosis. Index case presented with life threatening Proptosis with craniofacial abnormalities. On the basis of clinical profile, radiological and positive genetic work up diagnosis of Crouzon syndrome was confirmed.