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
Link To Document :
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