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Congenital Anomalies

journal
https://www.readbyqxmd.com/read/30378700/natural-histories-of-patients-with-wolf-hirschhorn-syndrome-derived-from-variable-chromosomal-abnormalities
#1
Keiko Yamamoto-Shimojima, Masanori Kouwaki, Yuki Kawashima, Kazuya Itomi, Ken Momosaki, Shiro Ozasa, Nobuhiko Okamoto, Kenji Yokochi, Toshiyuki Yamamoto
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 clinical finding. The WHS critical region has been narrowed into the region 2 Mb from the telomere, which includes LETM1 and WHSC1; however, this region is insufficient to cause "typical WHS facial appearance"...
October 31, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30375052/early-prenatal-detection-of-short-rib-polydactyly-syndrome-in-a-monochorionic-diamniotic-twin-pregnancy
#2
Li Zhen, Lv-Yin Huang, Dong-Zhi Li
No abstract text is available yet for this article.
October 29, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30315601/clinical-study-of-dentocraniofacial-characteristics-in-patients-with-williams-syndrome
#3
Sahori Matsuno, Michiko Tsuji, Rina Hikita, Tsutomu Matsumoto, Yoshiyuki Baba, Keiji Moriyama
Williams syndrome (WS) is a rare congenital anomaly that is characterized by distinctive facial features, congenital heart disease, and behavioral characteristics that include mental retardation. However, only a few reports have documented the dentocraniofacial morphological characteristics of WS in Japanese individuals. The aim of this study was to analyze the dentocraniofacial morphology and growth patterns in a group of nine Japanese subjects (two males and seven females; mean age at admission, 10.1 years) with WS...
October 12, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30270463/mutational-analysis-of-the-cyp1b1-gene-in-pakistani-primary-congenital-glaucoma-patients-identification-of-four-known-and-a-novel-causative-variant-at-the-3-splice-acceptor-site-of-intron-2
#4
Rabia Afzal, Sabika Firasat, Haiba Kaul, Bashir Ahmed, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Misbah Shahzadi, Kiran Afshan
Primary congenital glaucoma (PCG) causes blindness in early age. It has an autosomal recessive pattern of inheritance, hence is more prevalent in populations with frequent consanguineous marriages that occur in the Pakistani population. Mutations in the CYP1B1 gene are commonly associated with PCG. The aim of the present study was to identify genetic mutations in the CYP1B1 gene in PCG cases belonging to 38 Pakistani families. DNA was extracted using blood samples collected from all enrolled patients, their available unaffected family members and controls...
September 30, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30270455/novel-insertion-and-a-previously-reported-nonsense-variant-of-aloxe3-gene-lead-to-autosomal-recessive-ichthyosis-in-two-balochi-families
#5
Ambreen Ijaz, Musharraf Jelani, Anila Panezai, Tahmina Rabbani, Iftikhar A Rasool, Jamil Ahmad, Abdul Wali
No abstract text is available yet for this article.
September 30, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30225942/ring-chromosome-6-in-a-child-with-anterior-segment-dysgenesis-and-review-of-its-overlap-with-other-foxc1-deletion-phenotypes
#6
Jorge Román Corona-Rivera, Alfredo Corona-Rivera, Luz Consuelo Zepeda-Romero, Izabel Maryalexandra Rios-Flores, Jehú Rivera-Vargas, Mireya Orozco-Vela, Uriel Francisco Santana-Bejarano, Elizabeth Torres-Anguiano, Manuela Pinto-Cardoso, Dezső David, Lucina Bobadilla-Morales
Here, we report a patient with ring chromosome 6 [r(6)], associated with anterior segment dysgenesis (ASD) and other anomalies. The phenotype was due to a 1,880 kb microdeletion at 6p25.3 identified by whole-genome array analysis, and was mainly attributable to a FOXC1 haploinsufficiency. Currently 37 patients with r(6) have been reported. We found that facial dysmorphism, ASD, heart anomalies, brain anomalies, and hearing loss are constant features only in severe cases of r(6), mainly related to hemizygosity of FOXC1...
September 18, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30315596/58th-annual-meeting-of-the-japanese-teratology-society-congenital-anomalies-as-variants
#7
Hironao Numabe
No abstract text is available yet for this article.
November 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29542186/familial-campomelic-dysplasia-due-to-maternal-germinal-mosaicism
#8
Daisuke Higeta, Rie Yamaguchi, Takeshi Takagi, Gen Nishimura, Kiyoko Sameshima, Kayoko Saito, Takashi Minegishi
Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel SOX9 mutation (NM_000346.3: c.441delC, p.(Asn147Lysfs*36)). Radiological examination of the mother showed mild skeletal changes. Then, her somatic mosaicism of the mutation was ascertained...
November 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29520887/evaluation-of-a-patient-with-classical-ehlers-danlos-syndrome-due-to-a-9q34-duplication-affecting-col5a1
#9
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
Ehlers-Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers-Danlos syndrome classical type. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1...
November 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29381230/novel-syngap1-variant-in-a-patient-with-intellectual-disability-and-distinctive-dysmorphisms
#10
Yuichi Kimura, Moe Akahira-Azuma, Noriaki Harada, Yumi Enomoto, Yoshinori Tsurusaki, Kenji Kurosawa
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 intellectual disability in this patient.
November 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29405484/report-of-four-novel-variants-in-asns-causing-asparagine-synthetase-deficiency-and-review-of-literature
#11
Chelna Galada, Malavika Hebbar, Leslie Lewis, Santosh Soans, Rajagopal Kadavigere, Anshika Srivastava, Stephanie Bielas, Katta M Girisha, Anju Shukla
No abstract text is available yet for this article.
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29322592/predicting-the-intrauterine-fetal-death-of-fetuses-with-cystic-hygroma-in-early-pregnancy
#12
Mai Shimura, Hiroshi Ishikawa, Hiromi Nagase, Akihiko Mochizuki, Futoshi Sekiguchi, Naho Koshimizu, Toshiyuki Itai, Mizuha Odagami
We investigated whether it was possible to predict the prognosis of fetuses with cystic hygroma in early pregnancy based on the degree of neck thickening. We retrospectively analyzed 57 singleton pregnancies with fetuses with cystic hygroma who were examined before the 22nd week of pregnancy. The fetuses were categorized according to the outcome, structural abnormalities at birth, and chromosomal abnormalities. Here, we proposed a new sonographic predictor with which we assessed neck thickening by dividing the width of the neck thickening by the biparietal diameter, which is expressed as the cystic hygroma width/biparietal diameter ratio...
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29322562/pure-21q22-3-deletion-identified-in-a-patient-with-mild-phenotypic-features
#13
Ilária Cristina Sgardioli, Matheus de Melo Copelli, Elaine Lustosa-Mendes, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
No abstract text is available yet for this article.
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29322554/transcription-factor-foxc1-is-involved-in-anterior-part-of-cranial-base-formation
#14
Nandar Mya, Toshiko Furutera, Shigeru Okuhara, Tsutomu Kume, Masaki Takechi, Sachiko Iseki
The cranial base is a structure mainly formed through endochondral ossification and integrated into the craniofacial complex, which acts as an underlying platform for the developing brain. Foxc1 is an indispensable regulator during intramembranous and endochondral ossification. In this study, we found that the spontaneous loss of Foxc1 function in a mouse (congenital hydrocephalous), Foxc1ch/ch , demonstrated the anterior cranial base defects, including unossified presphenoid and lack of middle part of the basisphenoid bone...
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29292840/novel-missense-mutation-of-l1cam-in-a-fetus-with-isolated-hydrocephalus
#15
Honglei Duan, Guangfeng Zhao, Yaping Wang, Xiangyu Zhu, Jie Li
No abstract text is available yet for this article.
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29232005/x-linked-vacterl-h-caused-by-deletion-of-exon-3-in-fancb-a-case-report
#16
Norikazu Watanabe, Seiji Tsutsumi, Yuki Miyano, Hidenori Sato, Satoru Nagase
No abstract text is available yet for this article.
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29232001/novel-sequence-variants-in-the-mkks-gene-cause-bardet-biedl-syndrome-with-intra-and-inter-familial-variable-phenotypes
#17
Asmat Ullah, Maryam Khalid, Muhammad Umair, Sher Alam Khan, Muhammad Bilal, Saadullah Khan, Wasim Ahmad
No abstract text is available yet for this article.
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29105173/blechschmidt-collection-revisiting-specimens-from-a-historical-collection-of-serially-sectioned-human-embryos-and-fetuses-using-modern-imaging-techniques
#18
Reina Miyazaki, Haruyuki Makishima, Jörg Männer, Hans-Georg Sydow, Chigako Uwabe, Tetsuya Takakuwa, Christoph Viebahn, Shigehito Yamada
Along with the Carnegie Collection in the United States and the Kyoto Collection in Japan, the Blechschmidt Collection (Georg-August-University of Göttingen, Germany) is a major historical human embryo and fetus collection. These collections are of enormous value to human embryology; however, due to the nature of the historical histological specimens, some stains are fading in color, and some glass slides are deteriorating over time. To protect these specimens against such degradation and ensure their future usefulness, we tried to apply modern image scanning and computational reconstruction...
September 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30132994/prenatal-sonographic-findings-and-prognosis-of-craniosynostosis-diagnosed-during-the-fetal-and-neonatal-periods
#19
Aya Harada, Susumu Miyashita, Ryuhei Nagai, Shintaro Makino, Jun Murotsuki
The aim of the study was to explore the sonographic findings of fetuses with craniosynostosis and investigate their prognosis. We conducted a 5-year, multicenter retrospective study and collected data on patients with craniosynostosis diagnosed in the perinatal period. Of 41 cases, 30 cases (73%) were syndromic craniosynostosis, eight cases (20%) were non-syndromic craniosynostosis and the other three cases (7%) were secondary craniosynostosis of chromosomal deletion syndromes. The prenatal ultrasound detection rate was 61%...
August 22, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30084506/historical-control-data-on-developmental-toxicity-studies-in-rats
#20
Makiko Kuwagata, Yuko Sakai, Sho Tanaka, Hiromasa Takashima, Ryuichi Katagiri, Toshiki Matsuoka, Kenichi Noritake, Mika Senuma, Tatsuya Shimizu, Hitoshi Hojo, Kanata Ibi, Satoshi Kudo, Takafumi Oota, Masayuki Ube, Yoji Miwa, Shimpei Kajita, Tohru Uesugi, Kaoru Yabe, Taishi Tateishi, Nao Nakano, Terumasa Taniguchi, Akihito Yamashita, Takayuki Hirano, Yuka Kirihata, Yumi Sakai, Shino Nishizawa, Michio Fujiwara, Hiroshi Mineshima, Masao Horimoto, Makoto Ema
Historical control data from prenatal developmental toxicity studies in rats have been used to evaluate whether toxicology outcomes were induced by exposure to a chemical or were within the range of spontaneous variation. These data are also important for monitoring animal characteristics. As a follow-up to historical control data from 1998 to 2010, this study analyzed control data from prenatal developmental studies performed in rats from 2011 to 2015. Data were collected from studies performed by 24 Japanese laboratories, including 15 pharmaceutical and chemical companies and nine contract research organizations, in Sprague-Dawley and two-sub-strains of Wistar Hannover rats...
August 7, 2018: Congenital Anomalies
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