Melissa D. Porter , Kristin Smith , Rashawn Jackson , Mirissa Price , Zaid H. Khoury
{"title":"Noonan和Costello重叠综合征的口腔颌面表现:1例报告并文献复习","authors":"Melissa D. Porter , Kristin Smith , Rashawn Jackson , Mirissa Price , Zaid H. Khoury","doi":"10.1016/j.pdj.2025.100362","DOIUrl":null,"url":null,"abstract":"<div><div>Noonan syndrome (NS) and Costello syndrome (CS) are autosomal dominant anomalies belonging to the RASopathies; a group of disorders characterized by germline mutations of the Ras-MAPK signaling pathway. Although each RASopathy is unique, overlapping phenotypic features have been reported due to the common signaling pathway involved in the pathogenesis of these syndromes. Collectively, RASopathies’ incidence is about 1: 1000 births. Hallmark overlapping features of these disorders include distinctive maxillofacial deformities, developmental delays, mental deficiencies, and congenital heart defects. Dentoalveolar manifestations consist of high arched palates, gum disease, severe dental caries, malocclusions, enamel defects, and micrognathia. This case report highlights the rarity of these syndromes, clinical features of a recent case, as well as oral health management and maintenance along with a literature review.</div></div>","PeriodicalId":19977,"journal":{"name":"Pediatric Dental Journal","volume":"35 3","pages":"Article 100362"},"PeriodicalIF":0.8000,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Oral and maxillofacial manifestations of Noonan and Costello overlap syndrome: A case report and literature review\",\"authors\":\"Melissa D. Porter , Kristin Smith , Rashawn Jackson , Mirissa Price , Zaid H. Khoury\",\"doi\":\"10.1016/j.pdj.2025.100362\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Noonan syndrome (NS) and Costello syndrome (CS) are autosomal dominant anomalies belonging to the RASopathies; a group of disorders characterized by germline mutations of the Ras-MAPK signaling pathway. Although each RASopathy is unique, overlapping phenotypic features have been reported due to the common signaling pathway involved in the pathogenesis of these syndromes. Collectively, RASopathies’ incidence is about 1: 1000 births. Hallmark overlapping features of these disorders include distinctive maxillofacial deformities, developmental delays, mental deficiencies, and congenital heart defects. Dentoalveolar manifestations consist of high arched palates, gum disease, severe dental caries, malocclusions, enamel defects, and micrognathia. This case report highlights the rarity of these syndromes, clinical features of a recent case, as well as oral health management and maintenance along with a literature review.</div></div>\",\"PeriodicalId\":19977,\"journal\":{\"name\":\"Pediatric Dental Journal\",\"volume\":\"35 3\",\"pages\":\"Article 100362\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2025-09-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Dental Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0917239425000230\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"DENTISTRY, ORAL SURGERY & MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Dental Journal","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0917239425000230","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
Oral and maxillofacial manifestations of Noonan and Costello overlap syndrome: A case report and literature review
Noonan syndrome (NS) and Costello syndrome (CS) are autosomal dominant anomalies belonging to the RASopathies; a group of disorders characterized by germline mutations of the Ras-MAPK signaling pathway. Although each RASopathy is unique, overlapping phenotypic features have been reported due to the common signaling pathway involved in the pathogenesis of these syndromes. Collectively, RASopathies’ incidence is about 1: 1000 births. Hallmark overlapping features of these disorders include distinctive maxillofacial deformities, developmental delays, mental deficiencies, and congenital heart defects. Dentoalveolar manifestations consist of high arched palates, gum disease, severe dental caries, malocclusions, enamel defects, and micrognathia. This case report highlights the rarity of these syndromes, clinical features of a recent case, as well as oral health management and maintenance along with a literature review.