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1.
Suresh R. S. Mandrekar Sangeeta Amoncar R. G. W Pinto 《Indian journal of human genetics》2013,19(1):87-89
Tracheal agenesis (TA) is an extremely rare malformation. We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel''s diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies, Renal anomalies, Duodenal atresia association described previously in the literature. 相似文献
2.
Aliefendioglu D Bademci G Keskil S Somuncu S Misirlioglu E Cakmak AM 《Genetic counseling (Geneva, Switzerland)》2007,18(3):331-335
The VACTERL-H syndrome is a rare combination of vertebral anomalies, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus. This condition is recognized as a hereditary entity with poor prognosis. We present a newborn weighing 3400 g, born by cesarean section to a 27 years old mother who had had an irregular antenatal follow-up. The patient had severe hydrocephalus, proximal esophageal atresia and distal tracheoesophageal fistula, gastric outlet obstruction, imperforated anus and recto-urethral fistula, patent ductus arterious, a bifid scrotum, a vertebral defect, sacral dimple and central hypothyroidism. The patient had no limb defects. The association of central hypothyroidism and VACTERL-H has previously not been reported. 相似文献
3.
BACKGROUND: The aim of this observational study is to examine cases of upper respiratory atresia, in an effort to seek pathogenetic evidence suggestive of either a primary defect in embryogenesis or of a secondary etiology. METHODS: Archival material of 412 fetal and perinatal autopsies with congenital malformations was reviewed in an effort to identify infants with complete upper airway obstruction without tracheoesophageal (TE) communication. Histological sections of the upper and lower respiratory tract were examined, seeking evidence of previous amniotic fluid or meconium aspiration, indicated by the presence of amniotic squamous epithelial cells, lanugo hair, or bile-stained meconium in the airways. Immunohistochemical stain for epithelial membrane antigen (EMA) and high-molecular-weight cytokeratin (CK1) were used to identify amniotic fluid and keratinizing squamous epithelial cells. RESULTS: Eight infants with upper airway obstruction were identified, three of them without a TE communication. Two of the latter, one infant with multiple atresia born at 34 weeks gestation and another with tracheal atresia born at 32 weeks, presented evidence of amniotic fluid aspiration in their lungs. CONCLUSIONS: Evidence of amniotic fluid aspiration in the above two cases indicates that there had been a previous patency of the upper respiratory pathway, since the absence of a TE fistula excludes any communication with the oronasal cavity. This implicates a secondary pathogenesis for at least some cases of upper airway obstruction. 相似文献
4.
A review of the experience with esophageal atresia and tracheoesophageal fistula over a 25-year period appears to lead to the advisability of the following procedures in surgical management:• Emergency gastrostomy under local anesthesia in all patients.• Extrapleural interruption of tracheo-esophageal fistula and end-to-end esophago-esophagostomy in patients who have the common type of upper esophageal atresia with distal tracheo-esophageal fistula.• Upper esophageal stretching and eventual esophago-esophagostomy in patients with proximal and distal esophageal atresia with or without proximal tracheo-esophageal fistula. 相似文献
5.
Summary Esophageal atresia with or without tracheoesophageal fistula (EA±TEF) usually occurs sporadically either as an isolated malformation or in conjunction with other congenital anomalies. Seventy-six familial cases are recorded in the literature. Two personal cases are additionally reported. An overview of the 33 pedigrees with familial occurence of EA is presented. All available data of relevance for genetic analysis are compiled in eight tables. Attention is given to possible heterogeneity between sporadic and familial and between isolated and associated EA. Guidelines for genetic counseling are presented. With exception of the cases where EA is part of a chromosomal or of a known monogenic or teratogenic syndrome, the recurrence risks fit into a multifactorial scheme. 相似文献
6.
David B. Sheldon 《The Western journal of medicine》1958,88(3):221-227
With the present-day development and understanding of anesthetic methods, fluid and electrolyte therapy, antibiotic medications and pediatric care, many congenital anomalies once uniformly fatal are now being successfully treated by emergency operations in the neonatal period. The eight most common of these which demand emergency operation in the immediate postnatal period are esophageal atresia and tracheoesophageal fistula, diaphragmatic hernia with dislocation of the abdominal viscera into the chest, malrotation of the intestine with obstruction, intestinal atresia, meconium ileus, imperforate anus, omphalocele and myelomeningocele.Although infants born with any of these serious problems often are born prematurely and often have more than one congenital anomaly, survival rates in the surgical treatment of these conditions are steadily improving. Early diagnosis and prompt treatment are the most important factors in the continued improvement of these survival rates. 相似文献
7.
Piotr Hajduk Alison May Prem Puri Paula Murphy 《Birth defects research. Part B, Developmental and reproductive toxicology》2012,95(2):175-183
The notochord has important structural and signaling properties during vertebrate development with key roles in patterning surrounding tissues, including the foregut. The adriamycin mouse model is an established model of foregut anomalies where exposure of embryos in utero to the drug adriamycin leads to malformations including oesophageal atresia and tracheoesophageal fistula. In addition to foregut abnormalities, treatment also causes branching, displacement, and hypertrophy of the notochord. Here, we explore the hypothesis that the notochord may be a primary target of disruption leading to abnormal patterning of the foregut by examining notochord position and structure in early embryos following adriamycin exposure. Treated (n = 46) and control (n = 30) embryos were examined during the crucial period when the notochord normally delaminates away from the foregut endoderm (6–28 somite pairs). Transverse sections were derived from the anterior foregut and analyzed by confocal microscopy following immunodetection of extracellular matrix markers E‐cadherin and Laminin. In adriamycin‐treated embryos across all stages, the notochord was abnormally displaced ventrally with prolonged attachment to the foregut endoderm. While E‐cadherin was normally detected in the foregut endoderm with no expression in the notochord of control embryos, treated embryos up to 24 somites showed ectopic notochordal expression indicating a change in characteristics of the tissue; specifically an increase in intracellular adhesiveness, which may be instrumental in structural changes, affecting mechanical and signaling properties. This is consistent with disruption of the notochord leading to altered signaling to the foregut causing abnormal patterning and congenital foregut malformations. 相似文献
8.
Janine F. Felix Elisabeth M. de Jong Claudine P. Torfs A. de Klein Robbert J. Rottier Dick Tibboel 《Birth defects research. Part A, Clinical and molecular teratology》2009,85(9):747-754
Esophageal atresia and/or tracheoesophageal fistula (EA/TEF) are severe congenital anomalies. Although recent years have brought significant improvement in clinical treatment, our understanding of the etiology of these defects is lagging. Many genes and genetic pathways have been implicated in the development of EA/TEF, but only a few genes have been shown to be involved in humans, in animals, or in both. Extrapolating data from animal models to humans is not always straightforward. Environmental factors may also carry a risk, but the mechanisms are yet to be elucidated. This review gives an overview of the current state of knowledge about both genetic and environmental risk factors in the etiology of EA/TEF. Birth Defects Research (Part A) 2009. © 2009 Wiley‐Liss, Inc. 相似文献
9.
A comparison of incidence trends for esophageal atresia and tracheoesophageal fistula, and infectious disease 总被引:1,自引:0,他引:1
There has been a suggestion that esophageal atresia with tracheoesophageal fistula (EA/TEF) may be related to the occurrence of infectious disease in the population during the time of early gestation. There is therefore a need for further data on trends in incidence related to infectious diseases. Data on the occurrence of EA/TEF with and without additional congenital malformations may also be relevant. The British Columbia Health Surveillance Registry is population-based with excellent case ascertainment of birth defects, and data are available on the incidence of infectious diseases for B.C., allowing comparison of trends to be made. One hundred forty-nine cases of EA/TEF occurred among 534,834 consecutive livebirths during the period 1966-1980 for an incidence rate of 1/3,590. No significant (p less than 0.05) annual, seasonal or monthly incidence trends were observed. In addition, the occurrence of EA/TEF could not be correlated with the prior incidence of infectious hepatitis, rubella, salmonella, or rubeola. Fifty-five percent of individuals with EA/TEF had congenital malformations in other systems, most frequently cardiovascular, gastrointestinal, and genitourinary. Most individuals with additional congenital malformations had multiple system involvement. 相似文献
10.
Miguel Urioste Isabel Lorda-Sánchez Manuel Blanco Elena Burón Paulino Aparicio Maria Luisa Martínez-Frías 《Human genetics》1996,97(2):214-217
We describe two unrelated patients with a complex malformation pattern that may be a candidate for a developmental gene disorder. These two patients had severe, symmetrical upper and lower limb deficiencies, vertebral hypersegmentation, and duodenal atresia. Patient 1 also had mirror-image polydactyly of his feet; patient 2 was athymic. The concurrence in two unrelated patients of additional vertebrae with severe anomalies in limb development, including a symmetrical deficiency of the four limbs and either mirror-image duplication of some toes (only in patient 1) or absence of the thymus (only in patient 2), represents an early alteration in body-plan organization. Since limb development, thymus development and segmentation are possibly under the control of homeobox genes in the human embryo, it seems reasonable that the malformations observed in these two patients resulted from a defect of a gene controlling developmental pattern formation, possibly a homeobox gene or a paired-box gene. Severe limb deficiencies have been reported in other well-known genetic entities, such as Roberts syndrome, Baller-Gerold syndrome, X-linked amelia, and DK-phocomelia syndrome. However, since the specific pattern of anomalies observed in these patients makes the diagnosis of some of the abovementioned disorders unlikely, we conclude that our patients have a previously undescribed disorder. 相似文献
11.
Solomon BD Pineda-Alvarez DE Hadley DW Keaton AA Agochukwu NB Raam MS Carlson-Donohoe HE Kamat A Chandrasekharappa SC 《Birth defects research. Part A, Clinical and molecular teratology》2011,91(9):862-865
BACKGROUND
Tracheo‐esophageal fistula (TEF) with/or without esophageal atresia (EA) is a common congenital malformation that is often accompanied by other anomalies. The causes of this condition are thought to be heterogeneous but are overall not well understood.CASE REPORT
We identified a patient with a TEF/EA, as well as cardiac and genitourinary anomalies, who was found to have a 0.7 Mb de novo deletion of chromosome 20q13.33. One gene within the deleted interval, GTPBP5, is of particular interest as a candidate gene.CONCLUSIONS
GTPBP5 bears further study as a cause of TEF/EA accompanied by other malformations. Birth Defects Research (Part A) 2011. © 2011 Wiley‐Liss, Inc. 相似文献12.
Rolle U Linse B Glasow S Sandig KR Richter T Till H 《Birth defects research. Part A, Clinical and molecular teratology》2007,79(8):612-613
BACKGROUND: An association between the triple-X syndrome (47,XXX) and gastrointestinal malformations is extremely rare. Most 47,XXX patients present with a normal phenotype, but genitourinary malformations have been described. CASE: We report a case of a child with 47,XXX and duodenal atresia. Antenatal ultrasound scan showed a dilated fetal stomach and upper part of the duodenum (double bubble phenomenon) at 31 weeks of gestation in a 31-year-old woman with polyhydramnion. The amniotic fluid karyotype showed 47,XXX. After a scheduled delivery, duodenal atresia was confirmed and treated with duodeno-duodenostomy. CONCLUSIONS: The possible association of gastrointestinal and genitourinary tract anomalies requires a detailed postnatal clinical investigation and ultrasonographic examination of the abdomen, retroperitoneum, and pelvis on all triple-X syndrome patients. 相似文献
13.
Of the 414 squirrel monkey pregnancies recorded at this institution since 1977, seven (1.7%) have resulted in offspring with clefts of the lip and/or palate. Associated malformations include a ventricular septal defect, renal agenesis, anal atresia, axial skeletal anomalies, and craniorachischisis (anencephaly and spina bifida). Three of these infants are the result of consanguineous matings. 相似文献
14.
Dorota Szumska Milena Cioroch Angela Keeling Annik Prat Nabil G. Seidah Shoumo Bhattacharya 《BMC developmental biology》2017,17(1):6
Background
Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects).Results
Using magnetic resonance imaging (MRI), we examined heart development in mouse embryos with zygotic and cardiac specific deletion of Pcsk5. We show that conditional deletion of Pcsk5 in all epiblastic lineages recapitulates all developmental malformations except for tracheo-esophageal malformations. Using a conditional deletion strategy, we find that there is an essential and specific requirement for Pcsk5 in the cranio-cardiac mesoderm for cardiogenesis, but not for conotruncal septation or any other aspect of embryonic development. Surprisingly, deletion of Pcsk5 in cardiogenic or pharyngeal mesodermal progenitors that form later from the cranio-cardiac mesoderm does not affect heart development. Neither is Pcsk5 essential in the neural crest, which drives conotruncal septation.Conclusions
Our results suggest that Pcsk5 may have an essential and early role in the cranio-cardiac mesoderm for heart development. Alternatively, it is possible that Pcsk5 may still play a critical role in Nkx2.5-expressing cardiac progenitors, with persistence of mRNA or protein accounting for the lack of effect of deletion on heart development.15.
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation 总被引:4,自引:0,他引:4
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Lalani SR Safiullah AM Fernbach SD Harutyunyan KG Thaller C Peterson LE McPherson JD Gibbs RA White LD Hefner M Davenport SL Graham JM Bacino CA Glass NL Towbin JA Craigen WJ Neish SR Lin AE Belmont JW 《American journal of human genetics》2006,78(2):303-314
CHARGE syndrome is a well-established multiple-malformation syndrome with distinctive consensus diagnostic criteria. Characteristic associated anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation. Recently, mutations of the chromodomain helicase DNA-binding protein gene CHD7 were reported to be a major cause of CHARGE syndrome. We sequenced the CHD7 gene in 110 individuals who had received the clinical diagnosis of CHARGE syndrome, and we detected mutations in 64 (58%). Mutations were distributed throughout the coding exons and conserved splice sites of CHD7. Of the 64 mutations, 47 (73%) predicted premature truncation of the protein. These included nonsense and frameshift mutations, which most likely lead to haploinsufficiency. Phenotypically, the mutation-positive group was more likely to exhibit cardiovascular malformations (54 of 59 in the mutation-positive group vs. 30 of 42 in the mutation-negative group; P=.014), coloboma of the eye (55 of 62 in the mutation-positive group vs. 30 of 43 in the mutation-negative group; P=.022), and facial asymmetry, often caused by seventh cranial nerve abnormalities (36 of 56 in the mutation-positive group vs. 13 of 39 in the mutation-negative group; P=.004). Mouse embryo whole-mount and section in situ hybridization showed the expression of Chd7 in the outflow tract of the heart, optic vesicle, facio-acoustic preganglion complex, brain, olfactory pit, and mandibular component of the first branchial arch. Microarray gene-expression analysis showed a signature pattern of gene-expression differences that distinguished the individuals with CHARGE syndrome with CHD7 mutation from the controls. We conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation. 相似文献
16.
《Biodemography and social biology》2013,59(4):286-293
Abstract An index which provides a measure of abrupt or sudden change in epidemic trends is provided. Using this index, a simple comparison of the epidemiology of deaths due to homicides, suicides, motor vehicle accidents, and other accidents is made. One example of the findings is that the trend in accidental deaths over recent years possesses more spontaneity or temporal clustering than the trend in violent nonaccidental deaths. Another application reveals an informative epide‐miologic feature of the birth defects tracheoesophageal fistula and esophageal atresia. Implications of such findings are considered. 相似文献
17.
The records of the B.C. Health Surveillance Registry were used to analyze all live births with spina bifida and hydrocephalus (SBHC) in British Columbia between 1952 and 1986 inclusive. A total of 479 cases (218 males and 261 females) occurred during this period in 1,298,267 consecutive live births, for an incidence of 3.7/10,000. There were more females, with the sex ratio being significantly different from that of the general population born over this period. No significant seasonal differences were observed over the time period. A comparison of life expectancy for individuals born 1962-1970 and 1970-1986 showed significant improvement in the probability of surviving to the age of 1 year for the latter group. There was also a small but statistically significant increased chance of surviving to age 7 years in the latter group but no difference in the probability of surviving from 7 years to 16 years. Life expectancy figures are shown in a format practical for counseling with regard to prognosis for affected individuals. Additional malformations not attributable to SBHC were observed in 6% (27 cases). These included renal anomalies, cleft lip and/or palate, tracheoesophageal fistula, and diaphragmatic hernia. The incidence of each defect was significantly greater than in the general population of births. 相似文献
18.
Adverse effects of prenatal methimazole exposure. 总被引:3,自引:0,他引:3
E Di Gianantonio C Schaefer P P Mastroiacovo M P Cournot F Benedicenti M Reuvers B Occupati E Robert B Bellemin A Addis J Arnon M Clementi 《Teratology》2001,64(5):262-266
BACKGROUND: A specific phenotype of methimazole (MMI) induced malformations has recently been postulated. MMI embryopathy is characterized by minor dysmorphic features, choanal atresia and/or esophageal atresia, growth retardation, and developmental delay. METHODS: We prospectively studied the outcome of pregnancy in 241 women counseled by 10 Teratology Information Services (TIS) of the European Network of Teratology Information Services (ENTIS) because of MMI exposure, and compared them with those of 1,089 pregnant women referred to TIS because of exposure to nonteratogenic drugs (control group). Information was obtained by mail or telephone interview. RESULTS: There was no increase in the general rate of major anomalies or of spontaneous or induced abortions in the MMI-exposed group in comparison with the control group. Two newborns were affected with one of the major malformations that are part of the postulated embryopathy. CONCLUSIONS: The results of this study indicate that choanal as well as esophageal atresia may have a higher incidence than expected in fetuses exposed to MMI between 3 and 7 gestational weeks. Until further data are available, thyrotoxicosis should be treated with propylthiouracil, as it is apparently safer for use during the fertile period. 相似文献
19.
目的:1.建立犬食管气管瘘动物模型;2.观察食管壁双瓣修补气管缺损术局部组织病理学改变、愈合情况及该术式的治疗效果。方法:犬16只,随机分为2组,实验组(12只)建立犬食管气管瘘动物模型,行食管壁双瓣修补气管缺损术,对照组(4只)正常犬作为空白对照,术后支气管镜检查,术后1,2,8周处死动物,观察实验动物一般情况、修补局部的大体改变和组织病理学改变,测定气管狭窄指数。结果:成功建立了犬食管气管瘘动物模型;食管双瓣修补术后,实验组动物呛咳症状消失,均存活至预定时间,修补瓣和气管之间愈合良好,修补瓣血供良好,未出现气管狭窄情况,气管通畅度良好。结论:通过手术方式建立食管气管瘘模型方法可靠;食管双瓣修补术治疗TEF效果良好,值得进一步研究及推广。 相似文献
20.
Cogulu O Gunduz C Karaca E Onay H Superti-Furga A Ozkinay F 《Genetic counseling (Geneva, Switzerland)》2007,18(1):77-83
Vertebral and rib anomalies occur because of defects at different stages of embryo development and result in different malformations. Developmental field defects are the term to describe the alterations in the biological units which occur because of defects in the pattern formation. Short trunk dwarfism associated with vertebral and rib anomalies is one of the well-known conditions described under various names. Here we report on a 20-month-old female with short trunk dwarfism involving an asymmetrically malformed thorax with kyphoscoliosis presenting skeletal anomalies of spine and ribs and additional multiple associated anomalies such as downslanting palpebral fissures, long philtrum, high palate, rocker bottom feet, dextroposition of heart, cascade stomach, retroposition of bulbi duodeni and bilateral renal cortical thinning. Ophthalmological examination revealed Duane anomaly. No mutation was detected in the analysis of the DLL3 gene. The malformations in the patient are related to different progenitor fields in the early development of the embryo and the presented combination of Duane anomaly with the associated anomalies has not been reported in the literature. 相似文献