Title of article
Premature Craniosynostosis in a Rare Genetic Disease- A Case Report
Author/Authors
DHARAMSHI, Hasnain abbas Karachi Medical and Dental College, Karachi, Pakistan , RAZA, Tufail Baqai Medical College, Karachi, Pakistan , MOHSIN ALI, Ali Abbas Sindh Medical College - Dow university of Health Sciences, Karachi, Pakistan , LILANI, Zuhair Karachi Medical and Dental College, Karachi, Pakistan , AHSAN, Zohaib Sindh Medical College - Dow university of Health Sciences, Karachi, Pakistan , FARAZ, Ahmad Karachi Medical and Dental College, Karachi, Pakistan , NAQVI, Tahira Karachi Medical and Dental College, Karachi, Pakistan
Pages
3
From page
404
To page
406
Abstract
Background: Crouzon syndrome is a rare genetic disorder inherited in autosomal dominant pattern with complete penetration and variable expressivity.Its most notable characteristic feature is premature synostosis of cranial sutures The case presented is of a 4 yr old boy with box like head with microcephaly, protuberant eyes, hydrocephalus, low visual acquity diagnosed as a case of crouzon syndrome after clinical and radiological assessment.
Keywords
Crouzon syndrome , Autosomal dominant , Premature craniosynostosis
Journal title
Astroparticle Physics
Serial Year
2015
Record number
2420229
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