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Apert Syndrome

Author(s)
ATIKA ZUBAIR ASLAM Department of Pediatrics Lahore Medical and Dental College/ Ghurki Trust Teaching Hospital, Lahore, Pakistan
RIZWAN WASEEM Department of Pediatrics Lahore Medical and Dental College/ Ghurki Trust Teaching Hospital, Lahore, Pakistan
Muhammad Ali Rauf Department of Pediatrics Lahore Medical and Dental College/ Ghurki Trust Teaching Hospital, Lahore, Pakistan
Azher Abbas Department of Pediatrics Lahore Medical and Dental College/ Ghurki Trust Teaching Hospital, Lahore, Pakistan
Tayyaba Noor Department of Pediatrics Lahore Medical and Dental College/ Ghurki Trust Teaching Hospital, Lahore, Pakistan
Muhammad Ali Rauf Department of Pediatrics Lahore Medical and Dental College/ Ghurki Trust Teaching Hospital, Lahore, Pakistan
Abstract
Apert syndrome is a very rare congenital disorder. Its inheritance may be autosomal dominant or sporadic. There is mutation in fibroblast growth factor receptor (2 geneFGFR2) which maps to chromosome 10. The birth prevalence is 1 in 80,000 live births1. It is characterized by craniosynostosis, mid face hypoplasia and syndactly involving hands and feet. Central nervous system abnormalities are also associated resulting in varying degree of mental retardation and intellectual disability. Management is multidisciplinary to treat complications and improve the quality of life.
Publication Details
Page(s) 53-56
DOI DOI not available
Published Journal: Pakistan Paediatric Journal, Volume: 39, Issue: 1, Year: 2015

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Keywords
Apert syndrome, craniosynostosis, syndactly
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