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Congenital Anomalies

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https://www.readbyqxmd.com/read/29732662/survival-in-double-aneuploidy-involving-trisomy-18-and-sex-chromosome-trisomy-a-case-report-of-a-27-month-old-child-and-a-review-of-the-literature
#1
Takahide Watabe, Hiroshi Koga
Maternal meiotic nondisjunction can cause autosomal trisomy, such as trisomy 13, 18, and 21, and parental meiotic nondisjunction or post-zygotic nondisjunction can cause sex chromosome trisomy, such as XXX (triple X syndrome), XXY (Klinefelter syndrome), and XYY (XYY syndrome).
May 7, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29722137/effects-of-the-y-chromosome-and-the-dominant-hemimelia-mutation-on-the-morphology-of-the-mouse-mandible
#2
Jun-Ichi Suto
The aims of this study were to test whether the Y-chromosome and the autosomal dominant hemimelia (Dh) mutation can affect mandible morphology in mice. I analyzed mandible size and shape using landmark-based geometric morphometrics in 16 DH-Chr Y@ -+/+ (@ represents one of the inbred strain names) strains and observed significant differences in mandible size. The largest mandible was identified in strain DH-Chr YC3H and the smallest in strain DH-Chr YKK . Canonical variate and discriminant function analyses suggested that the mandible shapes of strains DH-Chr YC3H and DH-Chr YKK differed from those of the other strains...
May 2, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29704261/further-evidence-for-causation-of-ischiospinal-dysostosis-by-a-pathogenic-variant-in-bmper-and-expansion-of-the-phenotype
#3
Smrithi Salian, Sheela Nampoothiri, Anju Shukla, Katta M Girisha
Ischiospinal dysostosis (ISD) is a rare skeletal dysplasia characterized by ischial hypoplasia, vertebral segmentation defects and rib deformity (Nishimura et al. 1999). Renal abnormalities, sacral hypoplasia and developmental delay are variable features associated with ISD (Nishimura et al. 2003). Exome sequencing in two families with ISD identified biallelic pathogenic variants in BMPER (OMIM #608699) as the cause of this condition (Kuchinskaya et al. 2016).
April 27, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29691907/investigation-of-maxillofacial-morphology-and-oral-characteristics-with-turner-syndrome-and-early-mixed-dentition
#4
Nozomi Ahiko, Yoshiyuki Baba, Michiko Tsuji, Reiko Horikawa, Keiji Moriyama
Turner syndrome (TS) is associated with an X chromosome abnormality in women and is characterized by infantilism, congenital webbed neck, and cubitus valgus. The aim of this study was to determine the maxillofacial morphology and oral characteristics of Japanese girls (mean age, 8.5 years) with TS and early mixed dentition. Lateral cephalograms obtained at the first visit were used to analyze maxillofacial morphology. Oral characteristics were identified using orthopantomograms, intraoral photographs, and study casts...
April 25, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29665137/morphological-development-of-baculum-and-forelimb-second-to-fourth-digit-ratio-in-mice
#5
Minami Fuse, Kazuhiko Sawada
The baculum (or os penis) is the non-appendicular osseous tissue owned by nine orders of mammals. In rodents, the baculum consists of three segments derived from developmentally-distinct origins: proximal endochondral, central intramembranous and distal cartilaginous segments (Murakami and Mizuno 1984). This report attempted to assess a contribution of physiological levels of prenatal testosterone to the mouse baculal morphology.
April 17, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29653020/developmental-toxicity-of-flucytosine-following-administration-to-pregnant-rats-at-a-specific-time-point-of-organogenesis
#6
Sakiko Fujii, Kaoru Yabe, Yuki Kariwano-Kimura, Masatoshi Furukawa, Kouta Itoh, Masao Matsuura, Masao Horimoto
To investigate the abnormalities that are specific to administration of flucytosine at one time point during embryonic organogenesis, flucytosine was administered orally to pregnant 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, viscerally and skeletally examined. Maternal body weight gain and food consumption were suppressed the day after administration of a 35 mg/kg. Fetal examinations revealed various alterations in both dose groups: externally preaxial polydactyly in the hind limb; skeletally fused lumbar centrum, absent sacral centrum, supernumerary sacral vertebra, and absent ribs...
April 13, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29575095/spinal-muscular-atrophy-with-respiratory-distress-type-1-associated-with-novel-compound-heterozygous-mutations-in-ighmbp2-differential-diagnosis-in-a-case-with-congenital-diaphragm-eventration
#7
Yoshitomo Yasui, Hitoshi Sato, Yo Niida, Miyuki Kohno
Spinal muscular atrophy with respiratory distress type 1 (SMARD1, OMIM #604320) is a rare motor neuron disease caused by autosomal recessive mutations in the immunoglobulin mu binding protein 2 (IGHMBP2) gene (Grohmann 2001). SMARD1 is characterized by respiratory failure requiring mechanical ventilation, initial distal and later generalized muscular weakness, and autonomic nerve dysfunction (Eckart 2015).
March 24, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29569758/xpc-gene-mutations-in-families-with-xeroderma-pigmentosum-from-pakistan-prevalent-founder-effect
#8
Ambreen Ijaz, Sulman Basit, Ajab Gul, Lilas Batool, Abrar Hussain, Sibtain Afzal, Khushnooda Ramzan, Jamil Ahmad, Abdul Wali
Xeroderma Pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity and increased risk of skin carcinoma. We investigated seven consanguineous XP families with nine patients from Pakistan. All the Patients exhibited typical clinical symptoms of XP since first year of life. Whole genome SNP genotyping identified a 14Mb autozygous region segregating with the disease phenotype on chromosome 3p25.1. DNA sequencing of XPC gene revealed a founder homozygous splice site mutation (c...
March 23, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29542187/multiplex-pcr-in-noninvasive-prenatal-diagnosis-for-fgfr3-related-disorders
#9
Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Thanatophoric dysplasia and achondroplasia are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because thanatophoric dysplasia is a lethal disorder and achondroplasia is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish thanatophoric dysplasia and achondroplasia. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected thanatophoric dysplasia or achondroplasia fetus...
March 14, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29542186/familial-campomelic-dysplasia-due-to-maternal-germinal-mosaicism
#10
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...
March 14, 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
#11
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...
March 9, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29266422/comment-on-a-prospective-study-on-fetal-posterior-cranial-fossa-assessment-for-early-detection-of-open-spina-bifida-at-11-13-weeks-by-kose-et-al
#12
LETTER
Robert Lachmann
No abstract text is available yet for this article.
March 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/28782137/interkinetic-nuclear-migration-in-the-tracheal-and-esophageal-epithelia-of-the-mouse-embryo-possible-implications-for-tracheo-esophageal-anomalies
#13
Ryo Kaneda, Yuko Saeki, Dereje Getachew, Akihiro Matsumoto, Motohide Furuya, Noriko Ogawa, Tomoyuki Motoya, Ashiq M Rafiq, Esrat Jahan, Jun Udagawa, Ryuju Hashimoto, Hiroki Otani
Interkinetic nuclear migration (INM) is a cell polarity-based phenomenon in which progenitor cell nuclei migrate along the apico-basal axis of the pseudostratified epithelium in synchrony with the cell cycle. INM is suggested to be at least partially cytoskeleton-dependent and to regulate not only the proliferation/differentiation of stem/progenitor cells but also the localized/overall size and shape of organs/tissues. INM occurs in all three of the germ-layer derived epithelia, including the endoderm-derived gut...
March 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/28742269/unilateral-lung-agenesis-aplasia-or-hypoplasia-which-one-is-it
#14
Khristopher M Nguyen, Snehal Vala, Sarah S Milla, Lokesh Guglani
No abstract text is available yet for this article.
March 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/28693051/whole-genome-snp-genotyping-in-a-family-segregating-developmental-dysplasia-of-the-hip-detected-runs-of-homozygosity-on-chromosomes-15q13-3-and-19p13-2
#15
Sulman Basit, Essa Alharby, Alia M Albalawi, Khalid I Khoshhal
Developmental dysplasia of the hip (DDH) is one of the most prevalent developmental orthopedic diseases worldwide. DDH is a spectrum of anatomical abnormalities of the hip joint and is characterized by premature arthritis in later life. Sporadic cases have been reported more frequently; however, some studies have reported families segregating DDH. Studies have suggested that the genetic factors play a significant role in the development of DDH. In order to detect genetic defect underlying DDH, we performed Sanger sequencing of all DDH associated genes, whole genome SNP genotyping and exome sequencing in a Saudi family with four individuals having DDH...
March 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/28686315/pentalogy-of-cantrell-in-a-monozygotic-twin-with-a-giant-omphalocele-firmly-attached-to-the-amniotic-membrane-successful-prenatal-diagnosis-and-cesarean-delivery
#16
Tomonobu Kanasugi, Akihiko Kikuchi, Noriyuki Uesugi, Daisuke Fukagawa, Hideyuki Chida, Yuri Sasaki, Gen Haba, Chizuko Isurugi, Rie Oyama, Tamotsu Sugai, Toru Sugiyama
No abstract text is available yet for this article.
March 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/28677208/congenital-duodenal-and-multiple-jejunal-atresia-with-malrotation-in-a-patient-with-down-syndrome
#17
Tsubasa Shironomae, Miwa Satomi, Tsuyoshi Kuwahara, Yoshitomo Yasui, Miyuki Kohno
No abstract text is available yet for this article.
March 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/28493478/three-dimensional-models-of-the-segmented-human-fetal-brain-generated-by-magnetic-resonance-imaging
#18
Yutaka Yamaguchi, Reina Miyazaki, Mikako Kamatani, Chigako Uwabe, Haruyuki Makishima, Momoko Nagai, Motoki Katsube, Akira Yamamoto, Hirohiko Imai, Katsumi Kose, Kaori Togashi, Shigehito Yamada
Recent advances in imaging technology have enabled us to obtain more detailed images of the human fetus in a nondestructive and noninvasive manner. Through detailed images, elaborate three-dimensional (3D) models of the developing brain can be reconstructed. The segmentation of the developing brain has been determined by serial sections. Therefore, in this study, we attempted to develop a 3D model of the fetal brain using magnetic resonance image (MRI). MR images from 19 specimens (11 embryonic specimens and eight fetal specimens from 5...
March 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29457660/prevalence-of-orofacial-clefts-and-risks-for-nonsyndromic-cleft-lip-with-or-without-cleft-palate-in-newborns-at-a-university-hospital-from-west-mexico
#19
Jorge Román Corona-Rivera, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Christian Peña-Padilla, Sandra Olvera-Molina, Miriam A Orozco-Martín, Diana García-Cruz, Izabel M Ríos-Flores, Brian Gabriel Gómez-Rodríguez, Gemma Rivas-Soto, J Jesús Pérez-Molina
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 the period 2009-2016 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with nonsyndromic cleft lip with or without cleft palate (cases), and 315 infants without birth defects (controls)...
February 19, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29405484/report-of-four-novel-variants-in-asns-causing-asparagine-synthetase-deficiency-and-review-of-literature
#20
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.
February 6, 2018: Congenital Anomalies
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