Dr. Isha Khaitan, K18218, Dr.Thakkar Hansa Harshadbhai
Purpose : Crouzon syndrome accounts for about 4.8% of all cases of craniosynostosis and occurs in approximately 1.6 per 100,000 live births worldwide.
Method : A 21day old female newborn presented with history of prominent eyeballs since birth. Personal history revealed normal pregnancy and delivery with no history of consanguinity. On physical examination, patient had brachycephaly, flat nasal bridge, maxillary hypoplasia with absence of syndactyly. Ocular examination revealed prominent eyeballs with hypertelorism, normal fundus, with no exposure keratitis. Systemic examination showed increase in respiratory rate with irregular heart rhythm.
Result : Plain radiography of skull showed craniosynostosis with shallow and widely spaced orbits. 2D Echo suggested congenital heart anomaly (PDA).
Conclusion : The final diagnosis of crouzon was made on the basis of clinical and radiographic findings. It deserves our attention as timely diagnosis contributes to the reduction of ophthalmic complications