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craniofacial malformation

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https://www.readbyqxmd.com/read/28727977/the-vanishing-twin-syndrome-two-cases-of-extreme-malformations-associated-with-vanished-twins
#1
Julia K Shinnick, Nasim Khoshnam, Sydney R Archer, Philip C Quigley, Haynes Robinson, Sarah Keene, Matthew T Santore, Sarah Hill, Binita Patel, Bahig M Shehata
Two cases of devastating fetal malformations associated with vanished monochorionic twins were identified upon review of pathology files. A 35-year-old G1P0 woman and 36-year-old G3P1 woman were both diagnosed with an intrauterine twin gestation via transvaginal ultrasound at 10 weeks. The spectrum of fetal anomalies ranged from omphalocele, bilateral upper extremity, and unilateral lower extremity hypoplasia, to craniofacial malformation with diaphragmatic hernia. On histopathologic examination, the placentas demonstrated vascular anastomoses between the surviving co-twin and the "vanished" fetal sac...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28716735/pupillary-measurements-and-anisocoria-in-chinese-preschoolers-3-4-years-of-age-screened-using-the-plusoptix-a12c
#2
Dan Huang, Xiaohan Zhang, Yue Wang, Hui Zhu, Hui Ding, Jing Bai, Ji Chen, Zhujun Fu, Zijin Wang, Xuejuan Chen, Hu Liu
PURPOSE: To evaluate the distribution of the pupil diameter and distance and the incidence of anisocoria in a screening setting for Chinese preschoolers 3-4 years of age. METHODS: This was a cross-sectional, population-based study conducted in children aged 3-4 years in Nanjing, China. Plusoptix photoscreening was conducted without cycloplegia. Additional assessments were conducted, including light reaction test, reevaluation for anisocoria (in dim and bright light), swinging-flashlight test, and cocaine test, if necessary...
July 14, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28705318/progressive-atrial-conduction-defects-associated-with-bone-malformation-caused-by-a-connexin-45-mutation
#3
Akiko Seki, Taisuke Ishikawa, Xavier Daumy, Hiroyuki Mishima, Julien Barc, Ryo Sasaki, Kiyomasa Nishii, Kayoko Saito, Mari Urano, Seiko Ohno, Saki Otsuki, Hiroki Kimoto, Alban-Elouen Baruteau, Aurelie Thollet, Swanny Fouchard, Stéphanie Bonnaud, Philippe Parent, Yosaburo Shibata, Jean-Philippe Perrin, Hervé Le Marec, Nobuhisa Hagiwara, Sandra Mercier, Minoru Horie, Vincent Probst, Koh-Ichiro Yoshiura, Richard Redon, Jean-Jacques Schott, Naomasa Makita
BACKGROUND: Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form. OBJECTIVES: The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation. METHODS: The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes...
July 18, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28704368/mouse-models-of-17q21-31-microdeletion-and-microduplication-syndromes-highlight-the-importance-of-kansl1-for-cognition
#4
Thomas Arbogast, Giovanni Iacono, Claire Chevalier, Nurudeen O Afinowi, Xander Houbaert, Matthijs C van Eede, Christine Laliberte, Marie-Christine Birling, Katrin Linda, Hamid Meziane, Mohammed Selloum, Tania Sorg, Nael Nadif Kasri, David A Koolen, Henk G Stunnenberg, R Mark Henkelman, Maksym Kopanitsa, Yann Humeau, Bert B A De Vries, Yann Herault
Koolen-de Vries syndrome (KdVS) is a multi-system disorder characterized by intellectual disability, friendly behavior, and congenital malformations. The syndrome is caused either by microdeletions in the 17q21.31 chromosomal region or by variants in the KANSL1 gene. The reciprocal 17q21.31 microduplication syndrome is associated with psychomotor delay, and reduced social interaction. To investigate the pathophysiology of 17q21.31 microdeletion and microduplication syndromes, we generated three mouse models: 1) the deletion (Del/+); or 2) the reciprocal duplication (Dup/+) of the 17q21...
July 13, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28689736/zebrafish-zic2-controls-formation-of-periocular-neural-crest-and-choroid-fissure-morphogenesis
#5
Irina Sedykh, Baul Yoon, Laura Roberson, Oleg Moskvin, Colin N Dewey, Yevgenya Grinblat
The vertebrate retina develops in close proximity to the forebrain and neural crest-derived cartilages of the face and jaw. Coloboma, a congenital eye malformation, is associated with aberrant forebrain development (holoprosencephaly) and with craniofacial defects (frontonasal dysplasia) in humans, suggesting a critical role for cross-lineage interactions during retinal morphogenesis. ZIC2, a zinc-finger transcription factor, is linked to human holoprosencephaly. We have previously used morpholino assays to show zebrafish zic2 functions in the developing forebrain, retina and craniofacial cartilage...
July 6, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28684073/craniofacial-and-extracraniofacial-anomalies-in-craniofacial-macrosomia-a-multicenter-study-of-755-patients
#6
Cornelia J J M Caron, Britt I Pluijmers, Eppo B Wolvius, Caspar W N Looman, Neil Bulstrode, Robert D Evans, Peter Ayliffe, John B Mulliken, David Dunaway, Bonnie Padwa, Maarten J Koudstaal
PURPOSE: Craniofacial microsomia (CFM) is a congenital malformation of structures derived from the first and second pharyngeal arches leading to underdevelopment of the face. However, besides the craniofacial underdevelopment, extracraniofacial anomalies including cardiac, renal and skeletal malformation have been described. The aim of this study is to analyse a large population of patients with regard to demographics, typical phenotypes including craniofacial and extracraniofacial anomalies, and the correlations between the different variables of this condition...
June 8, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28678887/oil-droplet-fouling-and-differential-toxicokinetics-of-polycyclic-aromatic-hydrocarbons-in-embryos-of-atlantic-haddock-and-cod
#7
Lisbet Sørensen, Elin Sørhus, Trond Nordtug, John P Incardona, Tiffany L Linbo, Laura Giovanetti, Ørjan Karlsen, Sonnich Meier
The impact of crude oil pollution on early life stages (ELS) of fish, including larvae and embryos, has received considerable attention in recent years. Of the organic components present in crude oil, polycyclic aromatic hydrocarbons (PAHs) are considered the main class of compounds responsible for toxic effects in marine organisms. Although evidence suggests that they are more toxic, alkylated PAHs remain much less studied than their unsubstituted congeners. Recently, it was established that embryos of Atlantic haddock (Melanogrammus aeglefinus) are particularly sensitive to dispersed crude oil, and it was hypothesized that this was caused by direct interaction with crude oil droplets, which adhered to the chorion of exposed embryos...
2017: PloS One
https://www.readbyqxmd.com/read/28678141/prevalence-of-rare-craniofacial-clefts
#8
Abdoljalil Kalantar-Hormozi, Ali Abbaszadeh-Kasbi, Farhood Goravanchi, Nazanin Rita Davai
BACKGROUND: Craniofacial clefts are extremely rare congenital malformations that have adverse functional, psychosocial, and aesthetic effects on patients' life. Although the exact incidence is unclear, it is estimated between 1.4 and 4.9 per 100,000 live births. Prevalence of the rare craniofacial clefts is imprecise due to the paucity of literature as well as their etiologies. METHODS: All the patients with rare craniofacial clefts during 10 years in a plastic surgery tertiary referral hospital were included, and Tessier craniofacial clefting classification was used for classifying the clefts...
July 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28669484/vertebral-anomalies-in-craniofacial-microsomia-a-systematic-review
#9
REVIEW
R W Renkema, C J J M Caron, I M J Mathijssen, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Craniofacial microsomia (CFM) is characterized by a heterogeneous underdevelopment of the facial structures arising from the first and second branchial arches, but extracraniofacial malformations such as vertebral anomalies also occur. This systematic review provides an overview of the literature on the types and prevalence of vertebral anomalies found in patients with CFM. A systematic search was conducted. Data on the number of patients, patient characteristics, types and prevalence of vertebral anomalies, and other associations between CFM and vertebral anomalies were extracted from the articles identified...
June 29, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28643916/a-review-of-craniofacial-and-dental-findings-of-the-rasopathies
#10
REVIEW
H Cao, N Alrejaye, O D Klein, A F Goodwin, S Oberoi
OBJECTIVES: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM)...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643456/irf6-expression-in-basal-epithelium-partially-rescues-irf6-knockout-mice
#11
Youssef A Kousa, Dina Moussa, Brian C Schutte
BACKGROUND: Mutations in IRF6, CHUK (IKKA) and RIPK4 can lead to a disease spectrum that includes cutaneous, limb and craniofacial malformations. Loss of these alleles in the mouse leads to perinatal lethality and severe cutaneous, limb and craniofacial defects. Genetic rescue in the mouse has been shown for Ikka and Ripk4. RESULTS: Here, we show partial genetic rescue of Irf6 knockout embryos using the KRT14 promoter to drive Irf6 expression in the basal epithelium...
June 23, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28642189/how-to-produce-pre-shaped-rigid-arch-bars-using-low-cost-3d-printing-technology%C3%A2-%C3%A2-a-technical-note
#12
C Druelle, S Touzet-Roumazeille, G Raoul, J Ferri, R Nicot
Numerous oral and maxillofacial procedures in dentate patients begin with the fixation of occlusions. While several techniques exist to perform mandibulo-maxillary fixation, many surgeons use arch bars in common practice. In cases of severe craniofacial traumas or jaw malformations, such as temporomandibular joint ankylosis, it may be impossible to use rigid arch bars. This technical note reports on the development of a technique to produce pre-shaped rigid arch bars using 3D printing technology. We take the case of a patient who presents Le Fort 1, Le Fort 2 and Le Fort 3 fractures as well as a central palatine disjunction, an angular mandibular fracture and bilateral zygomatic fractures...
June 19, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28623672/craniosynostosis-recognition-clinical-characteristics-and-treatment
#13
REVIEW
Nina Kajdic, Peter Spazzapan, Tomaz Velnar
Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. The main cause of craniosynostosis is premature closure of one or more cranial sutures. It usually occurs as an isolated condition, but may also be associated with other malformations as part of complex syndromes. When left untreated, craniosynostosis can cause serious complications, such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, anomalies affecting the eye, and psychological disturbances...
June 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28619674/frontal-cranioplasty-in-fronto-metaphyseal-dysplasia
#14
A Joly, A Pare, D Goga, B Laure
INTRODUCTION: Fronto-metaphyseal dysplasia (FMD), also called Gorlin-Cohen syndrome, is a rare syndrome initially described in 1969 by Gorlin and Cohen. Patients present skeletal dysplasia, craniofacial malformations and digit abnormalities. Craniofacial phenotype of FMD is characterized by supraorbital hyperostosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge and micrognathia. Here, we report the first adult case of craniofacial reconstruction with frontal cranioplasty in a patient with FMD...
June 12, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28611422/bone-fusion-in-normal-and-pathological-development-is-constrained-by-the-network-architecture-of-the-human-skull
#15
Borja Esteve-Altava, Toni Vallès-Català, Roger Guimerà, Marta Sales-Pardo, Diego Rasskin-Gutman
Craniosynostosis, the premature fusion of cranial bones, affects the correct development of the skull producing morphological malformations in newborns. To assess the susceptibility of each craniofacial articulation to close prematurely, we used a network model of the skull to quantify the link reliability (an index based on stochastic block models and Bayesian inference) of each articulation. We show that, of the 93 human skull articulations at birth, the few articulations that are associated with non-syndromic craniosynostosis conditions have statistically significant lower reliability scores than the others...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28604380/microsurgical-scia-siea-flap-for-facial-contour-correction-in-patient-with-hemifacial-microsomia
#16
Andrea Battisti, Andrea Cassoni Cassoni, Davina Bartoli, Marco Della Monaca, Giorgio Barbera, Edoardo Cerbelli, Valentino Valentini
AIM: We propose our experience in soft tissue reconstruction in Hemifacial microsomia using a free fascioadiposal flap. MATERIAL OF STUDY: Hemifacial microsomia (HFM) is a congenital disorder characterized by craniofacial malformation of one or both sides of the lower face. A 18-year-old female presented with hemifacial microsomia involving the left side. A free SCIA/SIEA fascioadiposal flap was transferred to the left face for soft tissue augmentation. RESULTS: The immediate postoperative course of the patient was uneventful, with no complication and adequate augmentation in contour deformity was achieved...
2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28602263/immunohistochemical-and-histochemical-characterization-of-intraosseous-arteriovenous-malformations-of-the-jaws-analysis-of-16-cases-with-emphasis-on-glut-1-immunophenotype
#17
Reda Taleb, Ioannis G Koutlas, Prokopios P Argyris
OBJECTIVES: Intraosseous vascular lesions of the craniofacial region are rare and may cause diagnostic and therapeutic challenges. The purpose of this study was to characterize 16 cases of intraosseous arteriovenous malformations (AVMs) affecting the jaws. STUDY DESIGN: Immunohistochemical evaluation was performed using antibodies against α-smooth muscle actin (α-SMA), desmin, CD31, D2-40, and glucose transporter 1 (GLUT-1). Staining with elastic Verhoeff-Van Gieson and Masson trichrome histochemical stains was also performed...
April 25, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28585657/a-rare-case-of-monozygotic-iniodymic-diprosopiasis-in-a-german-holstein-calf
#18
Jim Weber, Holger Behn, Markus Freick
Craniofacial duplication abnormity is a rare phenomenon in buiatric practice. This report attends to a male German Holstein calf which could be classified as a diprosopic iniodymus. A fetus exhibiting a doubled face was delivered after fetotomy. To our knowledge, this is the first description of diprosopiasis with two cranial cavities as well as two separate encephala in a calf showing the potential extent of duplication. Throughout this work also the question is answered of whether this malformation in a bovine species arose from one embryo or rather, there is a dizygotic background by genotyping of tissue samples from both parts of the diprosopus...
June 1, 2017: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
https://www.readbyqxmd.com/read/28583755/prognostic-significance-of-an-antenatal-magnetic-resonance-imaging-staging-system-on-airway-outcomes-of-fetal-craniofacial-venolymphatic-malformations
#19
David T Schindel, Diane Twickler, Natalie Frost, Deryk Walsh, Patricia Santiago-Munoz, Romaine Johnson
BACKGROUND: The aim of the article was to determine if anatomical findings on fetal magnetic resonance imaging (MRI) of venolymphatic malformations of the face and neck (VLMFN) can be used to create a staging system predictive of airway outcomes. METHODS: We reviewed 13 fetuses evaluated for VLMFN. Stage was assigned based on anatomical findings on fetal MRI. Stage I: no evidence of polyhydramnios with free egress of amniotic fluid and clear visualization of the aryepiglottic folds and larynx...
May 11, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28567144/pretreatment-effect-of-folic-acid-on-13-cis-ra-induced-cellular-damage-of-developing-midfacial-processes-in-cultured-rat-embryos
#20
Rungarun Kriangkrai, Suconta Chareonvit, Sachiko Iseki, Visaka Limwongse
OBJECTIVE: Excess treatment of 13-cis-RA (Accutane(®)) on pregnant women induces craniofacial malformation found in infants. However, the effect of folic acid on 13-cis-RA-induced cellular damages of developing midfacial processes is still unknown. The purpose of this study was to investigate the pretreatment effect of folic acid (FA) on 13-cis-RA-induced cellular damage in developing midfacial processes in rat embryos. MATERIALS AND METHODS: The rat embryos at developing midfacial processes were performed by whole embryo culture in vitro, in the presence of 13-cis-RA (20 µM) with or without pre-treatment of FA (100 µM)...
2017: Open Dentistry Journal
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