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Apert syndrome
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نویسنده
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aslam a.z. ,waseem r. ,yaqoob m. ,abbas a. ,noor t. ,rauf m.a.
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منبع
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pakistan paediatric journal - 2015 - دوره : 39 - شماره : 1 - صفحه:53 -56
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چکیده
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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. © 2015,pakistan pediatric journal. all rights reserved.
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کلیدواژه
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Apert syndrome; Craniosynostosis; Syndactly
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آدرس
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department of pediatrics,lahore medical and dental college,ghurki trust teaching hospital,lahore, Pakistan, department of pediatrics,lahore medical and dental college,ghurki trust teaching hospital,lahore, Pakistan, department of pediatrics,lahore medical and dental college,ghurki trust teaching hospital,lahore, Pakistan, department of pediatrics,lahore medical and dental college,ghurki trust teaching hospital,lahore, Pakistan, department of pediatrics,lahore medical and dental college,ghurki trust teaching hospital,lahore, Pakistan, department of pediatrics,lahore medical and dental college,ghurki trust teaching hospital,lahore, Pakistan
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Authors
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