Journal of craniofacial genetics and developmental biology. Supplement最新文献

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Quantitative analysis of the effect of retinoids on facial morphogenesis. 类维生素a对面部形态发生影响的定量分析。
S E Wedden, C Tickle
{"title":"Quantitative analysis of the effect of retinoids on facial morphogenesis.","authors":"S E Wedden,&nbsp;C Tickle","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Retinoids have been applied to stage 20 chick embryos by using beads that act as controlled release carriers. With beads soaked in high concentrations of all-trans-retinoic acid, the face, in addition to the wing, is affected. Severe bilateral clefting of the primary palate results; the upper beak is completely missing, whereas the lower beak is unaffected. By using a scoring system that quantitates the severity of the upper beak defect, dose-response curves have been obtained. With beads soaked in progressively higher concentrations of retinoic acid, the upper beaks are increasingly truncated. The synthetic retinoid TTNPB also causes beak defects and is 30 times more potent than all-trans-retinoic acid. By removing beads soaked in retinoids at different times after implantation, the effect of varying the length of exposure of the developing face to retinoids has been examined. The production of beak defects is a two-step process and only a short exposure to retinoid is required to produce clefting. There are striking similarities in the dose-time relationships of retinoid treatments that are required to bring about beak defects and pattern changes in the limb. The outgrowth and development of spatially defined patterns of connective tissue within the upper beak appear analogous to processes involved in limb morphogenesis. We propose that retinoids may act by the same mechanisms in both systems. An unsolved puzzle is why retinoids specifically affect the development of the upper beak.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"169-78"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614455","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
Fate of unfused medial edge epithelia in rat fetuses with experimentally induced cleft palate: I. From 16.3 to 17.7 days of gestation. 实验性腭裂大鼠胎儿未融合的内边缘上皮的命运:1 .妊娠16.3 ~ 17.7天。
P M Schüpbach, H E Schroeder
{"title":"Fate of unfused medial edge epithelia in rat fetuses with experimentally induced cleft palate: I. From 16.3 to 17.7 days of gestation.","authors":"P M Schüpbach,&nbsp;H E Schroeder","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The fate of unfused medial edge epithelia (MEE) was studied in rat (Sprague-Dawley) fetuses with experimentally induced cleft palate. Clefting was the result of amniotic sac puncture and the age of fetuses was individually determined ( = MA-age). The MEE (at five selected areas), the oral palatal, and the nasal septum epithelia of six specimens (with individual ages of 16.3, 16.8, 16.9, 17.0, 17.5, and 17.7 days) were illustrated by scanning electron and light microscopy. At day 16.3 of MA-age, the MEE was covered with cells of a regular shape. In the anterior elevation area, visible signs of cell death and surface alterations could not be observed until day 17.7. In the middle elevation area, a small region of exposed mesenchyme occurred at the level of the first and second rugae between day 16.9 and 17.5 of MA-age. At day 17.7, reepithelialization was complete. In the posterior elevation area and the anterior and posterior soft palate area, a narrow band of surface alterations (ie, surface accumulations of cell blebs, filopodial-like structures, and loss of villi-like cell boundaries) appeared cranial to a thickened termination of the hard palate epithelium between days 16.9 and 17.7 of MA-age. The residual MEE remained undifferentiated until day 17.5 of MA-age. At this point in time, small ciliated cells appeared in the MEE-domain near the borderline to the nasal epithelium. It is concluded that the fate of the unfused MEE differs in the various areas located along the anteroposterior shelf axis, so-called \"programmed cell death\" is restricted to a small zone in the middle elevation area, surface alterations observed along the thickened termination of the oral palate epithelium possibly reflect phenomena of epithelial rearrangement between the latter and the undifferentiated MEE, and the MEE remains undifferentiated, at least until day 17.5 of MA-age.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"293-318"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614969","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
Effect of maternal urethane administration on the manifestation of cleft lip and palate in CL/Fr mice. 母体给药氨基甲酸乙酯对CL/Fr小鼠唇腭裂表现的影响。
K Nakane, Y Kameyama
{"title":"Effect of maternal urethane administration on the manifestation of cleft lip and palate in CL/Fr mice.","authors":"K Nakane,&nbsp;Y Kameyama","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>To determine whether the administration of urethane also decreases the associated cleft palate in CL/Fr mice, pregnant CL/Fr mice (30% of their offspring have spontaneous cleft lip with associated cleft palate [CL/P]) were treated with various doses of urethane on different days of pregnancy. In the groups treated with 250, 500, and 750 mg/kg urethane on day 9 of pregnancy, the frequency of CL/P decreased with the dose to 18%, 14%, and 11% of term fetuses, respectively. In the group treated with 1,000 mg/kg urethane on day 9, the frequency of CL/P decreased to 6%, but isolated cleft palate (CP) was observed in 23% of term fetuses. Most fetuses in the same group had severe tail anomaly (absence of tail or stub tail), and showed marked loss in body weight. The CP observed in the group treated with 1,000 mg/kg urethane on day 9 might possibly be due to the teratogenicity of the drug.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"109-12"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14615149","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
Craniofacial growth during human secondary palate formation and potential relevance of experimental cleft palate observations. 人类二次腭裂形成过程中的颅面生长和实验腭裂观察的潜在相关性。
V M Diewert
{"title":"Craniofacial growth during human secondary palate formation and potential relevance of experimental cleft palate observations.","authors":"V M Diewert","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Although formation of the secondary palate is known to involve a complex sequence of developmental events, current concepts of palatal clefting emphasize alterations in the palatal shelves. The objective of this study was to identify similarities in facial growth and palatal formation in man and in rodent experimental models and to examine mechanisms of experimentally induced cleft palate that might be relevant to human clefting. Morphometric analyses of facial growth changes reveal similar patterns of mandibular prominence, head extension, and increased oronasal cavity vertical dimension during secondary palate development, with more pronounced changes in the human. Experimental studies of induced cleft palate in rats and mice show that interference with growth changes can contribute to cleft palate. Failure of palatal shelves to make contact, often associated with delayed horizontal movement, has been observed with increased tongue obstruction secondarily to mandibular retrognathia after either growth inhibition in Meckel's cartilage or morphologic deformation of Meckel's cartilage. In other experiments, failure of adequate shelf contact has been observed with reduced shelf growth or with altered craniofacial relations associated with abnormally flexed head posture resulting from fetal growth abnormalities or oligohydramnios. The results of these studies show that the etiology of cleft palate malformation can be related to interference with a number of different development events not immediately in the palatal shelves. Similar alterations of craniofacial growth that affect the palate secondarily appear to be associated with etiology of cleft palate in human syndromes such as Pierre Robin syndrome and the oligohydramnios syndrome.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"267-76"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614967","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
Liability to cleft palate in trisomy 19 mouse embryos. 19三体小鼠胚胎的腭裂易感性。
M Vekemans, T Trasler
{"title":"Liability to cleft palate in trisomy 19 mouse embryos.","authors":"M Vekemans,&nbsp;T Trasler","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A mouse model is available which permits both the measurement of the underlying liability for cleft palate and the induction of trisomic states. By using this model the palate development has been investigated and compared in normal and trisomic embryos. These studies indicate that palate development of trisomy 19 embryos is significantly delayed compared to that of their normal littermates. Furthermore, the delay in palate development observed in trisomy 19 embryos is in direct relationship with the observed pattern of palate development in normal littermates. This suggests that the increased expression of major congenital malformations associated with aneuploidy is due to a change in their underlying liability.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"235-40"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614965","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
Mandibular-morphogenesis gene linked to the H-2 complex in mice. 与小鼠H-2复合物相关的下颌形态发生基因。
D W Bailey
{"title":"Mandibular-morphogenesis gene linked to the H-2 complex in mice.","authors":"D W Bailey","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The shapes of mandibles from mice of a group of H-2 congenic strains are compared to that of their C57BL/6By background strain. One congenic strain carries a passenger gene that evokes an elongation of the dorsal reach of the condylar process as does an H-2 recombinant congenic strain derived from it. Two other independently derived H-2 congenic strains do not carry such a gene. This indicates that the effective gene resides outside of and on the centromeric side of the H-2 complex on chromosome 17. Reiterated tests demonstrate the reproducibility of this type of genetic analysis.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"33-9"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14614971","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
Current concepts in craniofacial anomalies. A symposium in honor of Joseph J. Bonner. 1-2 August 1985. 颅面畸形的最新概念。纪念约瑟夫·j·邦纳的研讨会,1985年8月1日至2日。
{"title":"Current concepts in craniofacial anomalies. A symposium in honor of Joseph J. Bonner. 1-2 August 1985.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"2 ","pages":"1-339"},"PeriodicalIF":0.0,"publicationDate":"1986-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14659658","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
Cardiorespiratory disease associated with Hallermann-Streiff syndrome: analysis of craniofacial morphology by cephalometric roentgenograms. 与Hallermann-Streiff综合征相关的心肺疾病:头颅x线片颅面形态分析
H Friede, M Lopata, E Fisher, I M Rosenthal
{"title":"Cardiorespiratory disease associated with Hallermann-Streiff syndrome: analysis of craniofacial morphology by cephalometric roentgenograms.","authors":"H Friede,&nbsp;M Lopata,&nbsp;E Fisher,&nbsp;I M Rosenthal","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This paper analyzes the craniofacial morphology in a patient with typical Hallermann-Streiff syndrome (HSS) who developed symptomatic cardiorespiratory deficiency at the age of 48 years. The patient had obstructive sleep apnea (OSA), hypoxia, hypercarbia, pulmonary hypertension, tricuspid insufficiency, and right ventricular failure. Analysis of cephalometric roentgenograms, done 15 years earlier, revealed severe mandibular hypoplasia with marked underdevelopment of the ramus and body. The gonial angle was abnormally obtuse. The condylar and coronoid processes were reduced in size. The anteroposterior dimension of the upper airway was markedly narrowed. Cephalometric roentgenograms of six other HSS patients from our clinic were compared to those of the reference patient. Considerable variation in the features of the syndrome were noted. None of the other patients showed definitive airway obstruction. Comparison was also made with cephalometric roentgenograms of a patient with Treacher Collins syndrome and of a patient with progeria. The former showed airway obstruction associated with a deformed hypoplastic mandible; the latter had an unobstructed airway despite a small mandible because of associated hypoplasia of the maxilla and tongue. The HSS reference patient improved after oxygen therapy, diuretics, antibiotics, and relief of OSA. Patients with HSS, as well as those with Treacher Collins syndrome, appear to be at risk for the development of cardiopulmonary disease if they have obstructed airways. OSA has been shown to have developed in two patients with HSS. The resultant cardiopulmonary insufficiency of such patients may be preventable if airway obstruction can be relieved relatively early in life.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"1 ","pages":"189-98"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14993881","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
Craniofacial dysmorphology in syndromes associated with abnormal physical growth. 与身体异常生长相关综合征的颅面畸形。
N Motohashi
{"title":"Craniofacial dysmorphology in syndromes associated with abnormal physical growth.","authors":"N Motohashi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Nine syndromes associated with varying patterns of abnormal physical growth were selected to study quantitative craniofacial dysmorphology with cephalometric analysis. A schematic diagram was developed in which a hexagon measures the neurocranium and facial skeletal size and form. This hexagon offers the possibility of quantitative dysmorphic roentgencephalometry to study the effects of various growth disorders on the craniofacial complex.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"1 ","pages":"211-25"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14068289","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
The Dubowitz syndrome: a retrospective. 杜博维茨综合症:回顾。
K T Moller, R J Gorlin
{"title":"The Dubowitz syndrome: a retrospective.","authors":"K T Moller,&nbsp;R J Gorlin","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The purpose of the article is to update information concerning Dubowitz syndrome. A review of the literature since the disorder was originally described in 1965 is presented. In addition, case reports are presented for two siblings described in 1971 describing speech and dental development and current clinical findings. Analysis of approximately 30 cases reveals prevalence of growth failure and delayed bone age, mild microcephaly, broad forehead with sparse frontal hair, telecanthus, blepharophimosis, abnormal pinnae, broad nose, and micrognathia. Overt cleft palate or submucous cleft palate is not a prevalent finding (16%). High-pitched and hoarse voice quality appears to be a constant feature. There is the suggestion of an association with leukemia, lymphoma, and neuroblastoma. Inheritance appears clearly autosomal recessive.</p>","PeriodicalId":77863,"journal":{"name":"Journal of craniofacial genetics and developmental biology. Supplement","volume":"1 ","pages":"283-6"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14992338","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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