Ozmert Muhammet Ali Ozdemir, Musa Turgut, Gulay Sonmez Demir, Osman Uzunlu, Hacer Ergin
{"title":"Holt-Oram Syndrome with Sacrococcygeal Teratoma - A Rare Association.","authors":"Ozmert Muhammet Ali Ozdemir, Musa Turgut, Gulay Sonmez Demir, Osman Uzunlu, Hacer Ergin","doi":"10.14744/SEMB.2022.02359","DOIUrl":null,"url":null,"abstract":"<p><p>Holt-Oram syndrome (HOS) is characterized by upper-limb defects and congenital heart malformation, and its prevalence is very rarely. Mature cystic teratoma is the most common tumor seen in neonates and its most common location is sacrococcygeal region. Diagnosis of a sacrococcygealteratoma should be confirmed by pathology. Surgical resection is the mainstay therapeutic approach of this tumor. Some malformations such as genitourinary system, musculoskeletal anomalies, neural defects, cardiovascular anomalies, and pulmonary disorders associated with this tumor have been reported. Herein, we reported a male neonate diagnosed with HOS associated with sacrococcygealteratoma. To our knowledge, it has been not reported a case with HOS associated with sacrococcygealteratoma. Patients with sacrococcygealteratomas (SCTs) may have multiple and extreme congenital abnormalities; therefore, patients with SCTs should be carefully evaluated clinically, laboratory, and radiologically and it should be also considered that HOS may accompany them.</p>","PeriodicalId":42218,"journal":{"name":"Medical Bulletin of Sisli Etfal Hospital","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10805053/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medical Bulletin of Sisli Etfal Hospital","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14744/SEMB.2022.02359","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Holt-Oram syndrome (HOS) is characterized by upper-limb defects and congenital heart malformation, and its prevalence is very rarely. Mature cystic teratoma is the most common tumor seen in neonates and its most common location is sacrococcygeal region. Diagnosis of a sacrococcygealteratoma should be confirmed by pathology. Surgical resection is the mainstay therapeutic approach of this tumor. Some malformations such as genitourinary system, musculoskeletal anomalies, neural defects, cardiovascular anomalies, and pulmonary disorders associated with this tumor have been reported. Herein, we reported a male neonate diagnosed with HOS associated with sacrococcygealteratoma. To our knowledge, it has been not reported a case with HOS associated with sacrococcygealteratoma. Patients with sacrococcygealteratomas (SCTs) may have multiple and extreme congenital abnormalities; therefore, patients with SCTs should be carefully evaluated clinically, laboratory, and radiologically and it should be also considered that HOS may accompany them.
霍尔特-奥拉姆综合征(Holt-Oram syndrome,HOS)以上肢缺损和先天性心脏畸形为特征,发病率极低。成熟囊性畸胎瘤是新生儿中最常见的肿瘤,最常见的部位是骶尾部。骶尾部畸胎瘤的诊断应由病理学证实。手术切除是治疗这种肿瘤的主要方法。与该肿瘤相关的一些畸形,如泌尿生殖系统、肌肉骨骼畸形、神经缺陷、心血管畸形和肺部疾病也有报道。在此,我们报告了一名被诊断为骶尾部软骨瘤伴发 HOS 的男性新生儿。据我们所知,目前还没有 HOS 伴发骶尾部软骨瘤的病例报道。骶尾部软骨瘤(SCTs)患者可能有多种极端的先天性畸形;因此,应对骶尾部软骨瘤患者进行临床、实验室和放射学方面的仔细评估,同时还应考虑到HOS可能与骶尾部软骨瘤同时存在。