CIVILICA We Respect the Science
(ناشر تخصصی کنفرانسهای کشور / شماره مجوز انتشارات از وزارت فرهنگ و ارشاد اسلامی: ۸۹۷۱)

Apert Syndrome: A Case Report

عنوان مقاله: Apert Syndrome: A Case Report
شناسه ملی مقاله: JR_IRJN-13-1_013
منتشر شده در در سال 1401
مشخصات نویسندگان مقاله:

Shahin Mafinejad - Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
Hojat Ehteshammanesh - Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
Ghasem Bayani - Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
Hosein Mahmoodzade - Student Research Committee, North Khorasan University of Medical Sciences, Bojnurd, Iran

خلاصه مقاله:
Background: Primary craniosynostosis is a form of premature fusion of the cranial sutures, which commonly occurs prenatally. The condition appears in both syndromic and nonsyndromic forms.Case report: The cause of most cases of primary craniosynostosis are unknown, with genetic syndromes explaining ۱۰%–۲۰% of cases. The most prevalent syndromes associated with primary craniosynostosis are Crouzon, Apert, and Pfeiffer. Scaphocephaly is the most typical form of craniosynostosis that occurs due to premature closure of the sagittal suture. Frontal plagiocephaly is another form of this condition that is caused by the premature fusion of a sphenofrontal or coronal suture. The suture line palpation at birth usually exhibits a bony ridge. In these case, head CT or skull radiograph may be prescribed. Some genetic types of craniosynostosis are triggered by FGFR۱, TWIST, FGFR۲, or FGFR۳ mutations.Conclusion: A rare congenital condition, Apert syndrome is associated with craniosynostosis and severe symmetrical syndactyly of the feet and hands. In this case study, the goal has been to present a newborn with all characteristics of a classical Apert syndrome.  

کلمات کلیدی:
Apert, Craniosynostosis, Midface hypoplasia, Syndactyly

صفحه اختصاصی مقاله و دریافت فایل کامل: https://civilica.com/doc/1389858/