K. Nadanasadharam, S. Jayanthan, N. Yuvaraj, S. Hariharan
{"title":"颅缝闭合不良1例-回顾经典影像学表现与颅缝闭合-罕见的关联","authors":"K. Nadanasadharam, S. Jayanthan, N. Yuvaraj, S. Hariharan","doi":"10.25259/crcr_48_2023","DOIUrl":null,"url":null,"abstract":"Pycnodysostosis is a rare skeletal dysplasia, which is characterized by disproportionate short stature, craniofacial abnormalities such as frontal and occipital bossing, small face, beaked nose, hypoplastic mandible, abnormal dentition, and hypoplastic terminal fingers and toes. In addition to these, the hypoplastic lateral end of clavicle, diffuse bone sclerosis, and segmentation anomalies of the spine are also reported. Although classical clinical findings may be present, imaging plays an important role in the diagnosis of this condition by ruling out other osteosclerotic skeletal dysplasias.","PeriodicalId":419021,"journal":{"name":"Case Reports in Clinical Radiology","volume":"85 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A case of pycnodysostosis – Review of classical imaging findings with craniosynostosis – A rare association\",\"authors\":\"K. Nadanasadharam, S. Jayanthan, N. Yuvaraj, S. Hariharan\",\"doi\":\"10.25259/crcr_48_2023\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Pycnodysostosis is a rare skeletal dysplasia, which is characterized by disproportionate short stature, craniofacial abnormalities such as frontal and occipital bossing, small face, beaked nose, hypoplastic mandible, abnormal dentition, and hypoplastic terminal fingers and toes. In addition to these, the hypoplastic lateral end of clavicle, diffuse bone sclerosis, and segmentation anomalies of the spine are also reported. Although classical clinical findings may be present, imaging plays an important role in the diagnosis of this condition by ruling out other osteosclerotic skeletal dysplasias.\",\"PeriodicalId\":419021,\"journal\":{\"name\":\"Case Reports in Clinical Radiology\",\"volume\":\"85 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-05-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Clinical Radiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25259/crcr_48_2023\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Clinical Radiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25259/crcr_48_2023","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A case of pycnodysostosis – Review of classical imaging findings with craniosynostosis – A rare association
Pycnodysostosis is a rare skeletal dysplasia, which is characterized by disproportionate short stature, craniofacial abnormalities such as frontal and occipital bossing, small face, beaked nose, hypoplastic mandible, abnormal dentition, and hypoplastic terminal fingers and toes. In addition to these, the hypoplastic lateral end of clavicle, diffuse bone sclerosis, and segmentation anomalies of the spine are also reported. Although classical clinical findings may be present, imaging plays an important role in the diagnosis of this condition by ruling out other osteosclerotic skeletal dysplasias.