{"title":"一例足月新生儿产前诊断为Alobar无脑畸形的病例报告","authors":"E. Malchova, K. Demova","doi":"10.2478/acm-2020-0016","DOIUrl":null,"url":null,"abstract":"\n Holoprosencephaly is a congenital structural abnormality of brain resulting from incomplete cleavage of prosencephalon into two cerebral hemispheres. It is classified as a disorder of organogenesis and brain histogenesis and is typically associated with facial anomalies.\n Holoprosencephaly is relatively rare – the incidence in live births varies between 1:10,000 – 1:15,000 but is described in 1 out of 250 spontaneously aborted embryos.\n There are four major varieties of holoprosencephaly according to the degree of separation of the brain hemispheres; this division is crucial for the patient’s prognosis. Three classic subtypes are alobar, semilobar, and lobar holoprosencephaly and there is also a fourth subtype called middle interhemispheric variant.\n We present a case study of a term newborn with prenatally diagnosed holoprosencephaly with severe facial dys-morphism and associated health complications.","PeriodicalId":30233,"journal":{"name":"Acta Medica Martiniana","volume":"20 1","pages":"138-142"},"PeriodicalIF":0.0000,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Case Report of a Term Newborn with Prenatally Diagnosed Alobar Holoprosencephaly\",\"authors\":\"E. Malchova, K. Demova\",\"doi\":\"10.2478/acm-2020-0016\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\\n Holoprosencephaly is a congenital structural abnormality of brain resulting from incomplete cleavage of prosencephalon into two cerebral hemispheres. It is classified as a disorder of organogenesis and brain histogenesis and is typically associated with facial anomalies.\\n Holoprosencephaly is relatively rare – the incidence in live births varies between 1:10,000 – 1:15,000 but is described in 1 out of 250 spontaneously aborted embryos.\\n There are four major varieties of holoprosencephaly according to the degree of separation of the brain hemispheres; this division is crucial for the patient’s prognosis. Three classic subtypes are alobar, semilobar, and lobar holoprosencephaly and there is also a fourth subtype called middle interhemispheric variant.\\n We present a case study of a term newborn with prenatally diagnosed holoprosencephaly with severe facial dys-morphism and associated health complications.\",\"PeriodicalId\":30233,\"journal\":{\"name\":\"Acta Medica Martiniana\",\"volume\":\"20 1\",\"pages\":\"138-142\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta Medica Martiniana\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2478/acm-2020-0016\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Medica Martiniana","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2478/acm-2020-0016","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Case Report of a Term Newborn with Prenatally Diagnosed Alobar Holoprosencephaly
Holoprosencephaly is a congenital structural abnormality of brain resulting from incomplete cleavage of prosencephalon into two cerebral hemispheres. It is classified as a disorder of organogenesis and brain histogenesis and is typically associated with facial anomalies.
Holoprosencephaly is relatively rare – the incidence in live births varies between 1:10,000 – 1:15,000 but is described in 1 out of 250 spontaneously aborted embryos.
There are four major varieties of holoprosencephaly according to the degree of separation of the brain hemispheres; this division is crucial for the patient’s prognosis. Three classic subtypes are alobar, semilobar, and lobar holoprosencephaly and there is also a fourth subtype called middle interhemispheric variant.
We present a case study of a term newborn with prenatally diagnosed holoprosencephaly with severe facial dys-morphism and associated health complications.
期刊介绍:
Acta Medica Martiniana is a medical scientific journal, first published in print form in December 2001. It is a continuation of the journal / almanac Folia Medica Martiniana (1971 - 1996). The journal‘s owner is the Jessenius Faculty of Medicine, Comenius University, Slovakia. Dissemination of research results and scientific knowledge from all areas of medicine and nursing. Stimulation, facilitation and supporting of publication activity for the young medical research and clinical generation. The contributions of young novice authors (PhD students and post-doctorials) are particularly welcome. Acta Medica Martiniana is an open-access journal, with a periodicity of publishing three times per year (Apr/Aug/Dec). It covers a wide range of basic medical disciplines, such as anatomy, histology, biochemistry, human physiology, pharmacology, etc., as well as all clinical areas incl. preventive medicine, public health and nursing. Interdisciplinary and multidisciplinary manuscripts, including papers from all areas of biomedical research, are welcome.