{"title":"患有努南综合征的双胞胎双侧耳廓对称性钙化","authors":"Courtney Leonard, Sarah Abduljabbar, Samuel Lance","doi":"10.1097/SCS.0000000000010804","DOIUrl":null,"url":null,"abstract":"<p><p>Noonan syndrome (NS) is a rare, genetic multisystem disorder often presenting with associated craniofacial abnormalities. The authors report an identical twin pair with classical features of NS including short stature, mild ptosis, hypertelorism, down-slanting palpebral fissures, low-set angulated ears, and giant cell tumors in the craniofacial skeleton. Interestingly, these patients also presented with bilateral, symmetric, dystrophic auricular calcifications. Genome sequencing revealed identical germline son of sevenless homolog 1 mutations and inversion of chromosome 2 (p11.2q13). Awareness of the association of auricular calcifications and NS may help guide clinical management for these patients, particularly if auricular procedures are indicated.</p>","PeriodicalId":15462,"journal":{"name":"Journal of Craniofacial Surgery","volume":" ","pages":""},"PeriodicalIF":1.0000,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Symmetric, Bilateral Auricular Calcifications in Twins With Noonan Syndrome.\",\"authors\":\"Courtney Leonard, Sarah Abduljabbar, Samuel Lance\",\"doi\":\"10.1097/SCS.0000000000010804\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Noonan syndrome (NS) is a rare, genetic multisystem disorder often presenting with associated craniofacial abnormalities. The authors report an identical twin pair with classical features of NS including short stature, mild ptosis, hypertelorism, down-slanting palpebral fissures, low-set angulated ears, and giant cell tumors in the craniofacial skeleton. Interestingly, these patients also presented with bilateral, symmetric, dystrophic auricular calcifications. Genome sequencing revealed identical germline son of sevenless homolog 1 mutations and inversion of chromosome 2 (p11.2q13). Awareness of the association of auricular calcifications and NS may help guide clinical management for these patients, particularly if auricular procedures are indicated.</p>\",\"PeriodicalId\":15462,\"journal\":{\"name\":\"Journal of Craniofacial Surgery\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-10-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Craniofacial Surgery\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/SCS.0000000000010804\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"SURGERY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Craniofacial Surgery","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/SCS.0000000000010804","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"SURGERY","Score":null,"Total":0}
Symmetric, Bilateral Auricular Calcifications in Twins With Noonan Syndrome.
Noonan syndrome (NS) is a rare, genetic multisystem disorder often presenting with associated craniofacial abnormalities. The authors report an identical twin pair with classical features of NS including short stature, mild ptosis, hypertelorism, down-slanting palpebral fissures, low-set angulated ears, and giant cell tumors in the craniofacial skeleton. Interestingly, these patients also presented with bilateral, symmetric, dystrophic auricular calcifications. Genome sequencing revealed identical germline son of sevenless homolog 1 mutations and inversion of chromosome 2 (p11.2q13). Awareness of the association of auricular calcifications and NS may help guide clinical management for these patients, particularly if auricular procedures are indicated.
期刊介绍:
The Journal of Craniofacial Surgery serves as a forum of communication for all those involved in craniofacial surgery, maxillofacial surgery and pediatric plastic surgery. Coverage ranges from practical aspects of craniofacial surgery to the basic science that underlies surgical practice. The journal publishes original articles, scientific reviews, editorials and invited commentary, abstracts and selected articles from international journals, and occasional international bibliographies in craniofacial surgery.