Atika Zubair Aslam, Rizwan Waseem, Muhammad Yaqoob, Azher Abbas, Tayyaba Noor, Muhammad Ali Rauf.
Apert Syndrome.
Pak Paed J Jan ;39(1):53-6.

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.

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