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The state of the art of dysmorphology. 畸形形态学研究的现状
American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350058008
B D Hall
{"title":"The state of the art of dysmorphology.","authors":"B D Hall","doi":"10.1001/archpedi.1993.02160350058008","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350058008","url":null,"abstract":"<p><p>The art of dysmorphology is simply a more detailed historical and clinical evaluation of a potentially dysmorphic individual. It requires precise observation and collating of all physical features, followed by interpretation, categorization, and diagnosis. It also requires an understanding of morphogenesis combined with an appreciation of form. Clinicians who practice dysmorphology well have certain personality traits that aid them in their pursuit of a diagnosis. Dysmorphology is at its apex of clinical maturation, but scientific discoveries and technology have begun to explain how and why malformations arise and why syndromes vary. Nevertheless, expertise in dysmorphology remains a clinical skill attainable by all who desire it. This visual diagnostic modality is inexpensive and often quick. Continued emphasis in training of dysmorphology in genetic fellowship programs will be critical to producing well-balanced clinical geneticists.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1184-9"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350058008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19227474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 9
Pitfalls in genetic counseling for childhood disorders: the pediatrician's role. 儿童疾病遗传咨询的陷阱:儿科医生的角色。
American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350127020
L R Shapiro
{"title":"Pitfalls in genetic counseling for childhood disorders: the pediatrician's role.","authors":"L R Shapiro","doi":"10.1001/archpedi.1993.02160350127020","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350127020","url":null,"abstract":"","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1253-4"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350127020","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19226678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetics: the quiet revolution in science and medicine. Implications for research on child health issues, education of health professionals, and the new preventive and curative medicine. 遗传学:科学和医学的无声革命。对儿童健康问题的研究、卫生专业人员的教育以及新的预防和治疗医学的影响。
American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350013002
V A Fulginiti
{"title":"Genetics: the quiet revolution in science and medicine. Implications for research on child health issues, education of health professionals, and the new preventive and curative medicine.","authors":"V A Fulginiti","doi":"10.1001/archpedi.1993.02160350013002","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350013002","url":null,"abstract":"","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1139-41"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350013002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19227468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Williams syndrome, Down syndrome, and cognitive neuroscience. 威廉姆斯综合症，唐氏综合症和认知神经科学。
American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350120019
P P Wang, U Bellugi
{"title":"Williams syndrome, Down syndrome, and cognitive neuroscience.","authors":"P P Wang,&nbsp;U Bellugi","doi":"10.1001/archpedi.1993.02160350120019","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350120019","url":null,"abstract":"","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1246-51"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350120019","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19226677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 88
Acute lymphoblastic leukemia in a 46,XY/47,XYY mosaic male: clonal origin of leukemia in the XY-bearing stem-cell line. 46,xy / 47,xyy嵌合男性的急性淋巴细胞白血病:XY干细胞系白血病的克隆起源
American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350128021
J W Taub, Y Ravindranath, A N Mohamed, S R Wolman, E V Bawle
{"title":"Acute lymphoblastic leukemia in a 46,XY/47,XYY mosaic male: clonal origin of leukemia in the XY-bearing stem-cell line.","authors":"J W Taub,&nbsp;Y Ravindranath,&nbsp;A N Mohamed,&nbsp;S R Wolman,&nbsp;E V Bawle","doi":"10.1001/archpedi.1993.02160350128021","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350128021","url":null,"abstract":"","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1254-5"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350128021","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19226679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
The Human Genome Project and the future of medicine. 人类基因组计划和医学的未来。
American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350019003
M S Guyer, F S Collins
{"title":"The Human Genome Project and the future of medicine.","authors":"M S Guyer,&nbsp;F S Collins","doi":"10.1001/archpedi.1993.02160350019003","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350019003","url":null,"abstract":"<p><p>The Human Genome Project is an international research effort the goal of which is to analyze the structure of human DNA and to determine the location of the estimated 100,000 human genes. Another component of the program is to analyze the DNA of a set of nonhuman model organisms to provide comparative information that is essential for understanding how the human genome functions. The project began formally in 1990. In this report, we summarize the rapid progress that has already been made; the impact that the resources already developed by the Human Genome Project have had on the ability of investigators to identify and isolate human genes, particularly those associated with disease; and the promise that the project offers for profoundly altering our approach to medical care, from one of treatment of advanced disease to prevention based on the identification of individual risk.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1145-52"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350019003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19227469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 37
A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome. 脆性X综合征对患有脆性X综合征的女性的生理、行为和医学表型的研究，包括人体测量测量
American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350110017
C Hull, R J Hagerman
{"title":"A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome.","authors":"C Hull,&nbsp;R J Hagerman","doi":"10.1001/archpedi.1993.02160350110017","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350110017","url":null,"abstract":"<p><p>The physical features of fragile X, including a long face, prominent ears, and hyperextensible joints, are present in affected males and females. Cytogenetically negative heterozygotes have been considered to be unaffected by the fragile X mental retardation-1 (FMR-1) gene. This study investigated the penetrance of the FMR-1 gene in cytogenetically negative but DNA-positive heterozygotes with a premutation (cytosine guanine guanine [CGG] amplification in the 50 to 200 repeat range), compared with carriers with a full mutation (> 200 CGG repeats) and control subjects. One hundred thirty-nine women with normal IQs between the ages of 18 and 45 years were studied. All underwent cytogenetic and DNA testing to determine their fragile X carrier status. A medical history-taking and a physical examination, including selected anthropometric measurements, were performed. Results indicate that the FMR-1 mutation mildly affects the physical phenotype of individuals even in the premutation state, although less dramatically than more affected heterozygotes. Carriers with a premutation differed significantly from control subjects in overall physical index score and in the anthropometric measure of ear prominence. These results suggest a phenotypic impact of the FMR-1 mutation even at the 50 to 200 CGG repeat length.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1236-41"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350110017","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19226675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 58
Telediagnostic conferencing. Telediagnostic会议。
American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350070010
M Feingold, J Frias, A E Lin, G B Schaefer, M Horwitz
{"title":"Telediagnostic conferencing.","authors":"M Feingold,&nbsp;J Frias,&nbsp;A E Lin,&nbsp;G B Schaefer,&nbsp;M Horwitz","doi":"10.1001/archpedi.1993.02160350070010","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350070010","url":null,"abstract":"","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1196"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350070010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19227476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
The North American Collaborative Study of Maternal Phenylketonuria. Status report 1993. 产妇苯丙酮尿症的北美合作研究。1993年现况报告。
American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350098015
R Koch, H L Levy, R Matalon, B Rouse, W Hanley, C Azen
{"title":"The North American Collaborative Study of Maternal Phenylketonuria. Status report 1993.","authors":"R Koch,&nbsp;H L Levy,&nbsp;R Matalon,&nbsp;B Rouse,&nbsp;W Hanley,&nbsp;C Azen","doi":"10.1001/archpedi.1993.02160350098015","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350098015","url":null,"abstract":"<p><p>Neonatal screening for phenylketonuria (PKU) has created an unexpected problem as females with PKU are reaching childbearing age. Surveys have revealed that maternal phenylalanine blood concentrations above 1200 mumol/L are associated with microcephaly, mental retardation, congenital heart defects, and intrauterine growth retardation among their offspring. It is estimated that as many as 3000 hyperphenylalaninemic females may be at risk for producing these fetal abnormalities. To examine this problem, the North American Maternal PKU Collaborative Study has been developed to evaluate the efficacy of a phenylalanine-restricted diet in reducing fetal morbidity. Preliminary findings indicate that phenylalanine restriction should begin before conception for females with PKU planning a pregnancy. Dietary control should maintain maternal blood phenylalanine levels between 120 and 360 mumol/L and should provide adequate energy, protein, vitamin, and mineral intake. Pregnant hyperphenylalaninemic females who achieved metabolic control after conception or by the 10th week of pregnancy had a better offspring outcome than anticipated.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1224-30"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350098015","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19226674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
X-linked lymphoproliferative disease. x连锁淋巴细胞增生性疾病。
American journal of diseases of children (1960) Pub Date : 1993-11-01 DOI: 10.1001/archpedi.1993.02160350116018
T A Seemayer, H Grierson, S J Pirruccello, T G Gross, D D Weisenburger, J Davis, K Spiegel, B Brichacek, J Sumegi
{"title":"X-linked lymphoproliferative disease.","authors":"T A Seemayer,&nbsp;H Grierson,&nbsp;S J Pirruccello,&nbsp;T G Gross,&nbsp;D D Weisenburger,&nbsp;J Davis,&nbsp;K Spiegel,&nbsp;B Brichacek,&nbsp;J Sumegi","doi":"10.1001/archpedi.1993.02160350116018","DOIUrl":"https://doi.org/10.1001/archpedi.1993.02160350116018","url":null,"abstract":"","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 11","pages":"1242-5"},"PeriodicalIF":0.0,"publicationDate":"1993-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160350116018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19226676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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