R. Narang, S. Sandhu, Sarfaraz Padda, J. Sandhu, A. Manchanda
{"title":"An Insight Into The Spectrum Of Apert Syndrome – A Case Study","authors":"R. Narang, S. Sandhu, Sarfaraz Padda, J. Sandhu, A. Manchanda","doi":"10.5580/c87","DOIUrl":null,"url":null,"abstract":"Apert’s syndrome (Acrocephalo-syndactyly) is a rare congenital, autosomal dominant condition characterized by primary craniosynostosis, mid face malformations and symmetrical syndactyly of the hand and feet. Untreated craniosynostosis leads to inhibition of brain growth and an increase in intracranial and intraorbital pressure. Despite of tremendous advances which have been made in the prevention and treatment of developmental anomalies, they still remain a significant cause of morbidity worldwide. As such, it is incumbent on clinicians to learn as much as possible about this condition so as to improve their ability to handle and prevent them. We present a case of Apert’s syndrome seen in a 10 year old boy. Because of the multiple alterations in patients with Apert syndrome, a multidisciplinary approach, including dentists and neurosurgeons, plastic surgeons, ophthalmologists and geneticists, is essential for a successful planning and treatment. The differences between Apert and Crouzon’s syndrome are also highlighted.","PeriodicalId":75037,"journal":{"name":"The Internet journal of pediatrics and neonatology","volume":"13 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2010-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Internet journal of pediatrics and neonatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5580/c87","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
Apert’s syndrome (Acrocephalo-syndactyly) is a rare congenital, autosomal dominant condition characterized by primary craniosynostosis, mid face malformations and symmetrical syndactyly of the hand and feet. Untreated craniosynostosis leads to inhibition of brain growth and an increase in intracranial and intraorbital pressure. Despite of tremendous advances which have been made in the prevention and treatment of developmental anomalies, they still remain a significant cause of morbidity worldwide. As such, it is incumbent on clinicians to learn as much as possible about this condition so as to improve their ability to handle and prevent them. We present a case of Apert’s syndrome seen in a 10 year old boy. Because of the multiple alterations in patients with Apert syndrome, a multidisciplinary approach, including dentists and neurosurgeons, plastic surgeons, ophthalmologists and geneticists, is essential for a successful planning and treatment. The differences between Apert and Crouzon’s syndrome are also highlighted.