Abstract:
:Cerebro-costo-mandibular syndrome (CCMS) is a very rare syndrome characterized by micrognathia and posterior rib gap, with a poor prognosis. To date, only 75 cases have been reported worldwide. The overall survival rate for patients with this disorder has not been reported, and a classification of the patients on the basis of the prognosis is not yet available. The present study analyzed the figures and prognoses of past patients and documented a new case of CCMS. Formerly published case reports and personal communications were used to reveal the prognosis and classification of CCMS. The occurrence ratios of rib gap defects and of missing ribs were examined. Patients were divided into the following three groups according to their life span: lethal type, where the patients died before 1 month; severe type, where the patients lived for 1-12 months; and mild type, where they survived for more than 1 year. A comparison was made of the number of rib gaps, missing ribs, and the rib gap ratio (defined as the number of rib gaps divided by the number of all existing ribs) among these three groups. A significant difference in the number of rib defects between the lethal type and other types was noted. Short life span of severe type patients, compared to mild type, was attributed to their subjection to severe respiratory infection. CCMS can be classified into three categories--lethal, severe, and mild--according to the severity of the symptoms and prognosis.
journal_name
Congenit Anom (Kyoto)journal_title
Congenital anomaliesauthors
Nagasawa H,Yamamoto Y,Kohno Ydoi
10.1111/j.1741-4520.2010.00281.xsubject
Has Abstractpub_date
2010-09-01 00:00:00pages
171-4issue
3eissn
0914-3505issn
1741-4520pii
CGA281journal_volume
50pub_type
杂志文章abstract::Cynomolgus monkey (Macaca fascicularis) is a popular laboratory primate belonging to Old World monkeys, which are the group most closely related to humans except for the apes. This paper summarizes a series of our studies regarding the development of cerebral sulci and gyri in this primate, and the stated possibility ...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2011.00352.x
更新日期:2012-03-01 00:00:00
abstract::Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. ...
journal_title:Congenital anomalies
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doi:10.1111/cga.12212
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abstract::A 32-year-old gravida 2, para 1 woman, with a previous uneventful pregnancy, underwent first trimester ultrasound screening for Down syndrome at 13 weeks according to the Fetal Medicine Foundation guidelines (http://www.fetalmedicine.com/pdf/11-14/english/FMF-English.pdf). The ultrasound showed increased nuchal transl...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2007.00146.x
更新日期:2007-06-01 00:00:00
abstract::It is known that the developing serotonergic system is one of the targets of ethanol teratogenicity. Because serotonin has multiple functions in both mature and immature brains, disturbance of the serotonergic system by ethanol exposure in utero can be cause of a wide range of psychiatric problems in adulthood. In the...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2010.00269.x
更新日期:2010-06-01 00:00:00
abstract::In vitro fertilization (IVF) and other assisted reproductive technologies (ART) are effective treatments for infertility and are widely provided at infertility clinics. Although IVF and related ART procedures are generally considered safe, some studies have suggested an excess occurrence of major malformations, low bi...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2005.00061.x
更新日期:2005-06-01 00:00:00
abstract::Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissence...
journal_title:Congenital anomalies
pub_type:
doi:10.1111/cga.12193
更新日期:2017-03-01 00:00:00
abstract::Maternal diabetes mellitus is associated with increased fetal teratogenesis, including cardiovascular defects. Non-specific maternal immune stimulation with Freund's complete adjuvant (FCA) or interferon gamma (IFNgamma) has been associated with protection against birth malformations. Using a diabetic mouse model, lat...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2008.00213.x
更新日期:2009-03-01 00:00:00
abstract::We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and short stature), and appendicular exostoses similar to trichorhinophalangea...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2007.00155.x
更新日期:2007-09-01 00:00:00
abstract::Wolf-Hirschhorn syndrome (WHS) is a subtelomeric deletion syndrome affecting the short arm of chromosome 4. The main clinical features are a typical craniofacial appearance, growth deficiency, developmental delays, and seizures. Previous genotype-phenotype correlation analyses showed some candidate regions for each cl...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12318
更新日期:2019-09-01 00:00:00
abstract::With the high cost and the long-term assessment of developmental toxicity testing in mammals, the vertebrate zebrafish has become a useful alternative model organism for high-throughput developmental toxicity testing. Zebrafish is also very favorable for the 3R perspective in toxicology; however, the methodologies use...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12142
更新日期:2016-01-01 00:00:00
abstract::Monitoring in Ishikawa Prefecture (mean population; 1,150,000), during the 20-year period from 1981 to 2000, involved monitoring the prevalence of congenital anomalies starting at gestational week 22. The main objectives of the present study were (1) to investigate the trend over the past 20 years in the prevalence of...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2003.tb01015.x
更新日期:2003-12-01 00:00:00
abstract::When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. We present a boy who was prenatally diagnosed by amniocentesis as having trisomy 9 mosaicisim but who had normal G-banding results on postnat...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2006.00111.x
更新日期:2006-06-01 00:00:00
abstract::Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(p15.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers....
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2005.00059.x
更新日期:2005-03-01 00:00:00
abstract::Recent development of biomedical engineering as well as basic biology and medicine has enabled us to induce cell-based regeneration of body tissue to self-repair defective tissue or substitute biological functions of damaged organs. For successful tissue regeneration, it is indispensable to give cells an environment s...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2004.00024.x
更新日期:2004-09-01 00:00:00
abstract::Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2010.00291.x
更新日期:2011-06-01 00:00:00
abstract::Even though from preclinical testing to drug risk labeling, the situation with drugs in pregnancy has improved substantially since the thalidomide scandal, there is still an increasing need to provide healthcare professionals and patients with updated individualized risk information for clinical decision making. For t...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2010.00308.x
更新日期:2011-03-01 00:00:00
abstract::There is limited information on the specific structural birth defects associated with the abdominal wall defects (AWD) omphalocele and gastroschisis, particularly which defects occur with the AWD at greater than expected rates (rates among all infants and fetuses with birth defects other than the AWD). Using data from...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2008.00184.x
更新日期:2008-06-01 00:00:00
abstract::Müllerian duct anomalies are infrequently encountered clinical problems and often present with difficulty in diagnosis. A high level of suspicion is the key to diagnosis, which is usually made soon after menarche. However, this is the first reported case of uterus didelphys with obstructed hemivagina and pyocolpos wit...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2008.00195.x
更新日期:2008-09-01 00:00:00
abstract::Many new microdeletion syndromes have been characterized in the past decade, including 2p15-p16.1 microdeletion syndrome. More than 10 patients with this syndrome have been described. Recently, we encountered two additional patients with 2p15-p16.1 microdeletion syndrome. All patients showed variable degrees of intell...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12112
更新日期:2015-08-01 00:00:00
abstract::The rapid rise in the prevalence of autism spectrum disorders (ASD) and other psychiatric disorders displaying similar traits has increased the need to elucidate their molecular mechanisms. Epidemiological studies have shown that maternal infection during mid-pregnancy is associated with increased risk of neurodevelop...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12323
更新日期:2019-05-01 00:00:00
abstract::The aim of the investigation was to describe the risk of selected types of birth defects among older siblings of infants and fetuses with specific birth defects. Using data from a population-based birth defects registry in Hawaii for deliveries during 1986-2000, the precurrence risk (risk among older siblings) for any...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2007.00173.x
更新日期:2008-03-01 00:00:00
abstract::The objective of the study presented here was to check the debated human teratogenic potential of sulfonamide drugs. Five different sulfonamides such as sulfamethazine, sulfathiourea, sulfamethoxypyridazine, sulfamethoxydiazine and the combination of sulfamethazine-sulfathiourea-sulfamethoxypyridazine were differentia...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2004.00012.x
更新日期:2004-06-01 00:00:00
abstract::An early second-trimester prenatal ultrasound diagnosis of an arthrogryposis multiplex congenita-like syndrome associated with median clefts is reported. A molecular biological work-up was performed to search for a potentially overlapping syndrome and dysostosis. Autopsy and postmortem radiogram were performed to conf...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2012.00388.x
更新日期:2013-09-01 00:00:00
abstract::Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the ephrin-B1 gene (EFNB1). The study of naturally occurring human EFNB1 mutations offers a unique opportunity to better define the critical por...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2006.00140.x
更新日期:2007-03-01 00:00:00
abstract::We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during ...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/cga.12276
更新日期:2018-07-01 00:00:00
abstract::Embryonic stem (ES) cells or induced pluripotent stem (iPS) cells are expected as a surrogate cell source for regenerative medicine. Many researchers have reported the differentiation method of insulin-expressing pancreatic β cells from ES or iPS cells. However, the detailed molecular mechanisms underlying the differe...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2010.00307.x
更新日期:2011-03-01 00:00:00
abstract::We describe a novel de novo heterozygous variant in SYNGAP1 (c.1741C>T, p.R581W), identified through targeted resequencing in an 8-year-old boy with intellectual disability, autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of in...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/cga.12273
更新日期:2018-11-01 00:00:00
abstract::Historical control data on rodent developmental toxicity studies, performed between 1994 and 2010, were obtained from 19 laboratories in Japan, including 10 pharmaceutical and chemical companies and nine contract research organizations. Rats, mice, and hamsters were used for developmental toxicity studies. Data includ...
journal_title:Congenital anomalies
pub_type: 历史文章,杂志文章
doi:10.1111/cga.12050
更新日期:2014-08-01 00:00:00
abstract::Down syndrome (DS) is the most common cause of mental retardation. Several DS mouse models with partial trisomy 16 homologous to human chromosome 21 have been developed, and our research group has been studying those mouse models. We have shown a dosage-dependent overexpression of genes in the trisomic region of the m...
journal_title:Congenital anomalies
pub_type: 杂志文章,评审
doi:10.1111/j.1741-4520.2012.00367.x
更新日期:2012-06-01 00:00:00
abstract::So far, 46 cases of placental mesenchymal dysplasia have been reported worldwide. We encountered 15 cases of placental mesenchymal dysplasia (PMD) including 7 cases delivered in our hospital. The incidence of PMD in our hospital was therefore, 7/30,758 (0.02%). The PMD had a peculiar appearance. In the gross findings,...
journal_title:Congenital anomalies
pub_type: 杂志文章
doi:10.1111/j.1741-4520.2002.tb00897.x
更新日期:2002-12-01 00:00:00