{"title":"颅面综合征患者的肥厚性心肌病:新的心颅综合征?","authors":"V. Kalra, Fuad M. Kiblawi","doi":"10.5580/28eb","DOIUrl":null,"url":null,"abstract":"We report a 6 year follow up on a patient with a non contributory family history having constellation of anomalies comprising of HOCM, turrencephaly, foreshortened mid face with retrusion of mid facial segment, low set ears, V pattern left exotropia, nystagmus with no developmental delay. DNA analysis of this patient was negative for Pfieffer, Crouzon or Apert syndrome. Review of literature uncovered no similar case reported. We think that this patient represents a new Cardio cranial dysostosis syndrome.","PeriodicalId":75037,"journal":{"name":"The Internet journal of pediatrics and neonatology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2010-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hypertrophic Cardiomyopathy In A Patient With Craniofacial Syndrom: New Cardiocranial Syndrome?\",\"authors\":\"V. Kalra, Fuad M. Kiblawi\",\"doi\":\"10.5580/28eb\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We report a 6 year follow up on a patient with a non contributory family history having constellation of anomalies comprising of HOCM, turrencephaly, foreshortened mid face with retrusion of mid facial segment, low set ears, V pattern left exotropia, nystagmus with no developmental delay. DNA analysis of this patient was negative for Pfieffer, Crouzon or Apert syndrome. Review of literature uncovered no similar case reported. We think that this patient represents a new Cardio cranial dysostosis syndrome.\",\"PeriodicalId\":75037,\"journal\":{\"name\":\"The Internet journal of pediatrics and neonatology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2010-12-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Internet journal of pediatrics and neonatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5580/28eb\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Internet journal of pediatrics and neonatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5580/28eb","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Hypertrophic Cardiomyopathy In A Patient With Craniofacial Syndrom: New Cardiocranial Syndrome?
We report a 6 year follow up on a patient with a non contributory family history having constellation of anomalies comprising of HOCM, turrencephaly, foreshortened mid face with retrusion of mid facial segment, low set ears, V pattern left exotropia, nystagmus with no developmental delay. DNA analysis of this patient was negative for Pfieffer, Crouzon or Apert syndrome. Review of literature uncovered no similar case reported. We think that this patient represents a new Cardio cranial dysostosis syndrome.
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