Thao T. Wolbert, Nathaniel A. Teitler, Lauren Weis, Anna Podber, Jason J. Miller
{"title":"儿童性颅缝闭闭与Fontaine早老性综合征:一种罕见的遗传疾病和外科治疗","authors":"Thao T. Wolbert, Nathaniel A. Teitler, Lauren Weis, Anna Podber, Jason J. Miller","doi":"10.1177/27325016231193701","DOIUrl":null,"url":null,"abstract":"We present a case of cranial vault remodeling in a patient with Fontaine Progeroid Syndrome. At birth, the patient presented with midfacial retrusion, pansynostosis, and significant agenesis of the central vertex skull. Genetic testing revealed a de novo variant in the SLC25A24 gene, confirming the diagnosis of Fontaine Progeroid Syndrome. For craniosynostotis management of her pansynostosis and the large central vertex agenesis, surgical reconstruction was purposely delayed to allow ossification of the cranial vault. Subsequently, the cranial vault expansion was performed at the age of 4. Intraoperatively, significant dense adherence of bilateral temporal, parietal, and frontal bones to the underlying dural lakes was noted. This is the first case report known in the literature regarding suggested surgical management of the syndromic craniosynostosis with an enormous central skull agenesis.","PeriodicalId":12994,"journal":{"name":"Head & Face Medicine","volume":null,"pages":null},"PeriodicalIF":2.4000,"publicationDate":"2023-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Syndromic Craniosynostosis in a Child With Fontaine Progeroid Syndrome: A Rare Genetic Disorder and the Surgical Management\",\"authors\":\"Thao T. Wolbert, Nathaniel A. Teitler, Lauren Weis, Anna Podber, Jason J. Miller\",\"doi\":\"10.1177/27325016231193701\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We present a case of cranial vault remodeling in a patient with Fontaine Progeroid Syndrome. At birth, the patient presented with midfacial retrusion, pansynostosis, and significant agenesis of the central vertex skull. Genetic testing revealed a de novo variant in the SLC25A24 gene, confirming the diagnosis of Fontaine Progeroid Syndrome. For craniosynostotis management of her pansynostosis and the large central vertex agenesis, surgical reconstruction was purposely delayed to allow ossification of the cranial vault. Subsequently, the cranial vault expansion was performed at the age of 4. Intraoperatively, significant dense adherence of bilateral temporal, parietal, and frontal bones to the underlying dural lakes was noted. This is the first case report known in the literature regarding suggested surgical management of the syndromic craniosynostosis with an enormous central skull agenesis.\",\"PeriodicalId\":12994,\"journal\":{\"name\":\"Head & Face Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.4000,\"publicationDate\":\"2023-08-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Head & Face Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/27325016231193701\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Head & Face Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/27325016231193701","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
Syndromic Craniosynostosis in a Child With Fontaine Progeroid Syndrome: A Rare Genetic Disorder and the Surgical Management
We present a case of cranial vault remodeling in a patient with Fontaine Progeroid Syndrome. At birth, the patient presented with midfacial retrusion, pansynostosis, and significant agenesis of the central vertex skull. Genetic testing revealed a de novo variant in the SLC25A24 gene, confirming the diagnosis of Fontaine Progeroid Syndrome. For craniosynostotis management of her pansynostosis and the large central vertex agenesis, surgical reconstruction was purposely delayed to allow ossification of the cranial vault. Subsequently, the cranial vault expansion was performed at the age of 4. Intraoperatively, significant dense adherence of bilateral temporal, parietal, and frontal bones to the underlying dural lakes was noted. This is the first case report known in the literature regarding suggested surgical management of the syndromic craniosynostosis with an enormous central skull agenesis.
期刊介绍:
Head & Face Medicine is a multidisciplinary open access journal that publishes basic and clinical research concerning all aspects of cranial, facial and oral conditions.
The journal covers all aspects of cranial, facial and oral diseases and their management. It has been designed as a multidisciplinary journal for clinicians and researchers involved in the diagnostic and therapeutic aspects of diseases which affect the human head and face. The journal is wide-ranging, covering the development, aetiology, epidemiology and therapy of head and face diseases to the basic science that underlies these diseases. Management of head and face diseases includes all aspects of surgical and non-surgical treatments including psychopharmacological therapies.