Birth defects original article series最新文献

{"title":"Hand malformations in the aborted embryo: an important source of genetic information.","authors":"M Ramsing, V Duda, Y Mehraein, H Gruber, W Coerdt, W Holzgreve, H Rehder","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"30 1","pages":"79-94"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20073850","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}

{"title":"Abnormal bone development: histopathology of skeletal dysplasias.","authors":"E Gilbert-Barness, J M Opitz","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"30 1","pages":"103-56"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20073888","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}

{"title":"Limb body wall complex: craniofacial defects as a distinctive factor.","authors":"R Russo, R Vecchione","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"30 1","pages":"157-64"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20073890","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}

{"title":"Three cases with nasopharyngeal/cranial teratomata.","authors":"G de Jong, P A Kirby","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"30 1","pages":"287-94"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20073836","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}

{"title":"Limb anomalies from evolutionary, developmental, and genetic perspectives.","authors":"J M Opitz","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Coming-on-land by vertebrates during the Devonian was preceded by a 100 million year history of evolution of fins from an early agnathan to a sarcopterygian state with proximal single stylopod bone and probable paired zeugopod bones. There is little disagreement about the homology [Owen, 1837: See Desmond, 1982; Owen, 1849 for a general discussion see Roth, 1988] of these three bones to the corresponding ones of present land vertebrates including those of birds and mammals; or, that the concept of homology in this context may safely be interpreted as meaning structural \"identity\" by virtue of descent from a common ancestor with a prototypic developmental plan irregardless of the corresponding innervating vertebral segments [qv Roth, 1988]. This extraordinarily conserved body plan in all four classes of tetrapods, including some 4500 living species of mammals, suggests early successful selection, adaptation, and emergence of developmental constraints assuring \"proper\" succession of proximo-distal epimorphic events and the structural and functional integrity of the autopod. The autopod is the most variable part of the tetrapod limb with humans, in contract to most other primates, retaining its most general form with little modification except for use of the thumb [Ankel-Simons, 1983]. There is also no question about the fact that during the later stages of blastogenesis the limb arises as a prepatterned single morphogenetic field from lateral plate (and somite) mesoderm and overlying ectoderm organizing in concert a single, orthotopic developmentally reactive system of ectoderm-covered mesodermal core with distal apical ectodermal ridge and posterior zone of polarizing activity. This assertion is based on two lines of evidence. First, experimental results [beginning with Harrison and Detweiler in 1918] recognized almost immediately as demonstrating not symmetrical, but \"equipotential\" fields with identical morphogenetic reaction potential in all vertebrates studied so far. One is tempted to say that these morphological results and interpretations have been, \"triumphantly\" confirmed by recent molecular work. Second, clinical insights beginning with thalidomide, and then drawing on the acrofacial dysostoses, the associations (VATER), and the discovery of the acrorenal polytopic field defect in humans, which found its explanation in the work of Lash and of Geduspan and Solursh (possibly involving a single molecule, namely, the insulin-like growth factor-I). It is evident that the gross morphological pattern set up in subsequent normal limb development is proximo-distally hierarchical (or at least sequential), and that the complex group of secondary (epimorphic) fields (perhaps as many as 33 as identified by analysis of mendelian mutations) is determined before cellular differentiation of the individual tissue components of the limb. The Anikin [1929] patterns of precartilage condensations, segmentations, and branchings in limb rudiments, while i","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"30 1","pages":"35-77"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20073840","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}

{"title":"CHARGE association in a neonate exposed in utero to carbon monoxide.","authors":"W Courtens,&nbsp;Y Hennequin,&nbsp;D Blum,&nbsp;E Vamos","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"30 1","pages":"407-12"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20073847","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}

{"title":"Severe hemifacial microsomia and absent right pharyngeal arch artery derivatives in a 19-week-old fetus.","authors":"J S Bamforth,&nbsp;G A Machin","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"30 1","pages":"227-45"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20073831","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}

{"title":"Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome.","authors":"K Vuopala,&nbsp;R Herva,&nbsp;F Pedrosa-Domellöf,&nbsp;L E Thornell","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"30 1","pages":"369-78"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20073843","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}

{"title":"A case of short-rib syndrome without polydactyly in a stillborn: a new type?","authors":"G Scarano,&nbsp;M Della Monica,&nbsp;G Capece,&nbsp;F Lonardo,&nbsp;G Neri,&nbsp;P Maroteaux","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"30 1","pages":"95-101"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20073851","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}

{"title":"Current status of the human malformation map.","authors":"J C Carey,&nbsp;D H Viskochil","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The recent advances in recombinant DNA technology are now being applied to map and clone the genes for dysmorphic syndromes. The genes for almost 40% of the malformation and dysplasia syndromes listed in Smith's Recognizable Patterns of Human Malformation [Jones, 1988] have now been mapped and/or identified. This strategy has dramatically changed the way in which clinical geneticists look at the basic mechanisms of genetic disorders. The primary purpose of applying positional cloning to human disease, including malformation syndromes, is to use the cloned gene to understand the basic pathogenesis of the disorder at hand. The importance of the application of knowledge of mouse models, to human molecular biology and the significance of the role of the clinician in documenting astute observations that assist in mapping cannot be overemphasized. Many of the successful outcomes in gene cloning in dysmorphic syndromes that have occurred thus far were clearly helped by the recognition of patients with chromosomal rearrangements. Collaboration of molecular biologists and clinical geneticists will clearly lead to the continued elucidation of the map location and cloned gene of many other disorders.</p>","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"30 1","pages":"13-34"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20073889","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}