Martina Vidová Uğurbaş, René Hako, Miloš Kňazovický
{"title":"一名 3 岁女孩的额叶畸形。","authors":"Martina Vidová Uğurbaş, René Hako, Miloš Kňazovický","doi":"10.1080/15513815.2023.2258417","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background:</b> Phocomelia is a congenital limb deformity in which the proximal part of the upper or lower limb does not develop. Occasionally the malformed limb may be located ectopically. <b>Case report:</b> We present a frontal phocomelia in a three-year-old girl with right-hand phocomelia and thoracoschisis. The patient's arm was connected directly from the front of the chest, with a rudimentary thumb and two fingers. The truncated arm was not functional. The acromioclavicular joint was abnormal and ectopic, the limb articulated with the medial side of sternum. The thoracoschisis manifested as eventration of the right liver lobe and right side of chest wall. <b>Conclusion:</b> Ectopic phocomelia can be associated with thoracoschisis, it can be nonfunctional, and can articulate with the sternum.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"71-75"},"PeriodicalIF":0.7000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The Frontal Phocomelia in a 3-Year-Old Girl.\",\"authors\":\"Martina Vidová Uğurbaş, René Hako, Miloš Kňazovický\",\"doi\":\"10.1080/15513815.2023.2258417\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Background:</b> Phocomelia is a congenital limb deformity in which the proximal part of the upper or lower limb does not develop. Occasionally the malformed limb may be located ectopically. <b>Case report:</b> We present a frontal phocomelia in a three-year-old girl with right-hand phocomelia and thoracoschisis. The patient's arm was connected directly from the front of the chest, with a rudimentary thumb and two fingers. The truncated arm was not functional. The acromioclavicular joint was abnormal and ectopic, the limb articulated with the medial side of sternum. The thoracoschisis manifested as eventration of the right liver lobe and right side of chest wall. <b>Conclusion:</b> Ectopic phocomelia can be associated with thoracoschisis, it can be nonfunctional, and can articulate with the sternum.</p>\",\"PeriodicalId\":50452,\"journal\":{\"name\":\"Fetal and Pediatric Pathology\",\"volume\":\" \",\"pages\":\"71-75\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Fetal and Pediatric Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/15513815.2023.2258417\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/9/16 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fetal and Pediatric Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/15513815.2023.2258417","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/9/16 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
Background: Phocomelia is a congenital limb deformity in which the proximal part of the upper or lower limb does not develop. Occasionally the malformed limb may be located ectopically. Case report: We present a frontal phocomelia in a three-year-old girl with right-hand phocomelia and thoracoschisis. The patient's arm was connected directly from the front of the chest, with a rudimentary thumb and two fingers. The truncated arm was not functional. The acromioclavicular joint was abnormal and ectopic, the limb articulated with the medial side of sternum. The thoracoschisis manifested as eventration of the right liver lobe and right side of chest wall. Conclusion: Ectopic phocomelia can be associated with thoracoschisis, it can be nonfunctional, and can articulate with the sternum.
期刊介绍：
Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports.
The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
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