{"title":"非致死性Hallermann-Streiff综合征合并骨折1例报告","authors":"Vildan Ertekin , Mukadder Ayşe Selimoğlu , Erol Selimoğlu","doi":"10.1016/j.anngen.2004.03.005","DOIUrl":null,"url":null,"abstract":"<div><p>The Hallermann–Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature. We present a 35-day-old patient with the classical signs except cutaneous atrophy, additionally he had a healing fracture at the proximal part of the left radius.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 4","pages":"Pages 387-391"},"PeriodicalIF":0.0000,"publicationDate":"2004-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.005","citationCount":"10","resultStr":"{\"title\":\"Non-lethal Hallermann–Streiff syndrome with bone fracture: report of a case\",\"authors\":\"Vildan Ertekin , Mukadder Ayşe Selimoğlu , Erol Selimoğlu\",\"doi\":\"10.1016/j.anngen.2004.03.005\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>The Hallermann–Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature. We present a 35-day-old patient with the classical signs except cutaneous atrophy, additionally he had a healing fracture at the proximal part of the left radius.</p></div>\",\"PeriodicalId\":100089,\"journal\":{\"name\":\"Annales de Génétique\",\"volume\":\"47 4\",\"pages\":\"Pages 387-391\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2004-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.005\",\"citationCount\":\"10\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales de Génétique\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S000339950400036X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales de Génétique","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S000339950400036X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Non-lethal Hallermann–Streiff syndrome with bone fracture: report of a case
The Hallermann–Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy and proportional small stature. We present a 35-day-old patient with the classical signs except cutaneous atrophy, additionally he had a healing fracture at the proximal part of the left radius.
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