Pseudoaprosencephaly: Aplasia of the Forebrain in a Median Facial Cleft Syndrome with Arhinia and Anophthalmia.

abstract：:Numerous studies have shown the importance of the mesocorticolimbic dopamine system in the pathophysiology of attention deficit/hyperactivity disorder. However, there has been inconsistency in the findings of those studies. Varied and sometimes contradictory interpretation has been made on the basis of similar results...

journal_title：Congenital anomalies

authors： Ohno M

更新日期：2003-06-01 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

authors： Ema M,Endoh K,Fukushima R,Fujii S,Hara H,Hirata-Koizumi M,Hirose A,Hojo H,Horimoto M,Hoshino N,Hosokawa Y,Imai Y,Inada H,Inawaka K,Itoh K,Katsumata Y,Izumi H,Kato H,Maeda M,Matsumoto K,Matsuo S,Matsuoka T,Mats

更新日期：2014-08-01 00:00:00

abstract：:It is known that neural tube defects are folic acid preventable congenital anomalies. We investigated to what extent this information was disseminated among laywomen and healthcare providers. Questionnaire studies were conducted twice, in 2002 and 2007, for four groups of laywomen and seven groups of healthcare provid...

journal_title：Congenital anomalies

authors： Kondo A,Yamamoto S,Inoue H,Watanabe J,Tada K,Yoshimoto N

更新日期：2009-09-01 00:00:00

abstract：:Thoracolumbar supernumerary ribs (TSRs) are classified as less severe skeletal anomalies in rat developmental toxicity studies, although their incidence is relatively high in rodent studies. To investigate the characteristics of the critical window for chemically-induced TSR, in this study, rats were administered 5-fl...

journal_title：Congenital anomalies

authors： Kuwagata M,Senuma M,Todoroki M,Kumagai F,Kumamoto T,Ogawa T

更新日期：2019-11-01 00:00:00

abstract：:To investigate the abnormalities that are specific to administration of flucytosine at one time point during embryonic organogenesis, flucytosine was administered orally to pregnant Sprague Dawley (SD) rats in a single dose on day 11 of pregnancy at 25 or 35 mg/kg. Fetuses on day 20 of pregnancy were externally, visce...

journal_title：Congenital anomalies

authors： Fujii S,Yabe K,Kariwano-Kimura Y,Furukawa M,Itoh K,Matsuura M,Horimoto M

更新日期：2019-03-01 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

authors： Tsukada T,Shimada H,Sakata-Haga H,Iizuka H,Hatta T

更新日期：2019-05-01 00:00:00

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 ...

journal_title：Congenital anomalies

authors： Nagasawa H,Yamamoto Y,Kohno Y

更新日期：2010-09-01 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

authors： Shimojima K,Okamoto N,Yamamoto T

更新日期：2015-08-01 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

authors： Tonni G,Lituania M

更新日期：2013-09-01 00:00:00

abstract：:The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting from WDR62 mutations. These mutations are associated with autosomal rece...

journal_title：Congenital anomalies

authors： Bastaki F,Mohamed M,Nair P,Saif F,Tawfiq N,Aithala G,El-Halik M,Al-Ali M,Hamzeh AR

更新日期：2016-05-01 00:00:00

abstract：:Choroid plexus, a fetal organ developing approximately from the sixth week of gestation, plays a fundamental role in developing fetal brain organization. As relatively little is known about the relationship between anomalies of choroid plexuses structure and their role in brain function, we examined cases of bifid cho...

journal_title：Congenital anomalies

authors： Centini G,Imperatore A,Morelli M,Rosignoli L,Passamonti U,Caprioli F,Lituania M

更新日期：2013-06-01 00:00:00

abstract：:The eye is a sensory organ that primarily captures light and provides the sense of sight, as well as delivering non-visual light information involving biological rhythms and neurophysiological activities to the brain. Since the early 1990s, rapid advances in molecular biology have enabled the identification of develop...

journal_title：Congenital anomalies

authors： Ohuchi H,Sato K,Habuta M,Fujita H,Bando T

更新日期：2019-05-01 00:00:00

abstract：:Molecular pathogenesis of human cerebral malformations is briefly reviewed from a neuropathologic viewpoint, with emphasis on holoprosencephaly and neuronal migration disorders. Immunopathologic approaches are useful in elucidating the essential pathomechanism of these anomalies. In alobar holoprosencephaly, for insta...

journal_title：Congenital anomalies

authors： Mizuguchi M

更新日期：2003-03-01 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

authors： Rana R,Pasrija S,Puri M

更新日期：2008-09-01 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

authors： Mishima T,Watari M,Iwaki Y,Nagai T,Kawamata-Nakamura M,Kobayashi Y,Fujieda S,Oikawa M,Takahashi N,Keira M,Yoshida H,Tonoki H

更新日期：2017-03-01 00:00:00

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

authors： Tonni G,Azzoni D,Ambrosetti F,de Felice C,Ventura A

更新日期：2007-06-01 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

authors： Tabata Y

更新日期：2004-09-01 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

authors： Arizawa M,Nakayama M

更新日期：2002-12-01 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

authors： Ohta K,Sakata-Haga H,Fukui Y

更新日期：2010-06-01 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

authors： Kosaki R,Hanai S,Kakishima H,Okada MA,Hayashi S,Ito Y,Takahashi T,Kosaki K,Okuyama T

更新日期：2006-06-01 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

authors： Forrester MB,Merz RD

更新日期：2008-03-01 00:00:00

abstract：:Non-invasive prenatal diagnostic methods posing no danger to the embryo have been desired for many years in the field of prenatal medicine. We are in the process of improving the lectin method that we developed for recovering fetus-derived nucleated red blood cells (NRBC) in the maternal peripheral blood. We previousl...

journal_title：Congenital anomalies

authors： Wachi T,Kitagawa M

更新日期：2004-12-01 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

authors： Nishimura Y,Inoue A,Sasagawa S,Koiwa J,Kawaguchi K,Kawase R,Maruyama T,Kim S,Tanaka T

更新日期：2016-01-01 00:00:00

abstract：:Semaphorins and their receptors, neuropilins and plexins, were initially characterized as a modulator of axonal guidance during development, but are now recognized as a regulator of a wide range of developmental events including morphogenesis and angiogenesis, and activities of the immune system. Owing to the developm...

journal_title：Congenital anomalies

authors： Masuda T,Taniguchi M

更新日期：2015-02-01 00:00:00

abstract：:Certain studies previously pointed out that treating pregnant women with antidepressants may increase risks of congenital anomalies in their children. However, to date, the study results are not conclusive. Furthermore, most studies have been performed using data from Western countries; therefore, we examined this ass...

journal_title：Congenital anomalies

authors： Yamamoto-Sasaki M,Yoshida S,Takeuchi M,Tanaka-Mizuno S,Kawakami K

更新日期：2020-11-01 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

authors： Wonkam A,Extermann P,Birraux J,Fokstuen S

更新日期：2011-06-01 00:00:00

abstract：:ABSTRACT The heart is the first organ to form and function during development. In the pregastrula chick embryo, cells contributing to the heart are found in the postero-lateral epiblast. During the pregastrula stages, interaction between the posterior epiblast and hypoblast is required for the anterior lateral plate m...

journal_title：Congenital anomalies

authors： Sakabe M,Matsui H,Sakata H,Ando K,Yamagishi T,Nakajima Y

更新日期：2005-12-01 00:00:00

abstract：:The human genome harbors approximately 2000 genes that encode microRNAs (miRNAs), small non-coding RNAs of approximately 20-22 nt that mediate post-transcriptional gene silencing. MiRNAs are generated from long transcripts through stepwise processing by the Drosha/DGCR8, Exportin-5/RanGTP and Dicer/TRBP complexes. Giv...

journal_title：Congenital anomalies

authors： Kawahara Y

更新日期：2014-02-01 00:00:00

abstract：:Six pediatric cases including four infants with congenital polymicrogyria including the perisylvian region are presented herein. Their clinical features were analyzed and compared with patients suffering from congenital bilateral perisylvian syndrome (CBPS). Two specific abnormalities were diagnosed as accompanying di...

journal_title：Congenital anomalies

authors： Takano T,Matsuwake K,Yoshioka S,Takeuchi Y

更新日期：2010-03-01 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

authors： Kikuchi N,Ogino T,Kashiwa H,Muragaki Y

更新日期：2007-09-01 00:00:00