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International Journal of Advanced Research
Article . 2023 . Peer-reviewed
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APERT SYNDROME : A CASE REPORT

Authors: Jaishri S. Pagare ,; Goklani Ankita Amar; d Virangana Moon;

APERT SYNDROME : A CASE REPORT

Abstract

Apert syndrome (AS) is indeed a rare congenital disorder that falls under the category of acrocephalosyndactyly. It is characterized by several distinct features, including craniosynostosis (premature fusion of certain skull bones), midface hypoplasia (underdevelopment of the middle part of the face), and syndactyly (fusion) of the hands and feet.The syndrome is typically caused by mutations in the fibroblast growth factor receptor gene (FGFR2). These mutations are inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the syndrome on to their children.Diagnosing Apert syndrome can be challenging due to its rarity and similarities with other craniosynostosis syndromes. However, certain key features can help differentiate it from other conditions. These features include early fusion of the coronal suture , cranial base synostosis , and agenesis (absence) of the sagittal suture (the suture running along the top of the skull).The characteristic appearance and dental features of Apert syndrome include maxillary transverse and sagittal hypoplasia, dental crowding, a pseudo-cleft palate and skeletal and dental anterior open bite.Given the multiple phenotypic signs and complex nature of the syndrome, successful management of Apert syndrome requires a multidisciplinary team approach. This team typically includes professionals from various specialties such as dentistry, neurosurgery, plastic surgery, psychiatry, ophthalmology, perinatology, and genetics. Each specialist contributes their expertise to provide comprehensive care and support for individuals with Apert syndrome.

Keywords

Apert Syndrome Craniosynostosis Syndactyly Dentofacial Features Midface Hypoplasia Pseudo Cleft Palate

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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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