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craniofacial malformation

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https://www.readbyqxmd.com/read/28809041/complex-malformations-involving-the-fetal-body-wall-definition-and-classification-issues
#1
Julia Bijok, Diana Massalska, Anna Kucińska-Chahwan, Anna Posiewka, Alicja Ilnicka, Grzegorz Jakiel, Tomasz Roszkowski
OBJECTIVE: To analyse the sonographic features, cytogenetic results and pregnancy outcomes in complex malformations involving the body wall in a large cohort of fetuses with regard to different definitions proposed in the literature. METHOD: A retrospective study on 96 fetuses with complex malformations comprising ventral wall, craniofacial structures, limbs and umbilical cord that were evaluated between 1997 and 2015. RESULTS: The most common sonographic finding was an extensive ventral wall defect (95...
August 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28783116/teratogenic-effects-of-topiramate-in-a-zebrafish-model
#2
Yu-Heng Lai, Yu-Ju Ding, David Moses, Yau-Hung Chen
Topiramate is commonly used for treating epilepsy in both children and adults. Recent clinical data suggests that administration of topiramate to women during pregnancy increases the risk of oral clefts in their offspring. To better understand the potential effects of topiramate, we dosed adult female zebrafish with topiramate, and investigated the altered morphologies in adult females and their offspring. It showed that topiramate-treated female fish had reduced oocyte maturation, and the survival rates of their offspring were seriously decreased during embryogenesis...
August 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28771384/vax1-plays-an-indirect-role-in-the-etiology-of-murine-cleft-palate
#3
F Geoghegan, G M Xavier, A A Birjandi, M Seppala, M T Cobourne
Cleft lip with or without palate (CLP) and isolated cleft palate (CP) are common human developmental malformations with a complex etiology that reflects a failure of normal facial development. VAX1 encodes a homeobox-containing transcription factor identified as a candidate gene for CLP in human populations, with targeted deletion in mice associated with multiple anomalies, including disruption of the visual apparatus and basal forebrain, lobar holoprosencephaly, and CP. We have investigated Vax1 function during murine palatogenesis but found no evidence for a direct role in this process...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28768473/a-de-novo-missense-mutation-of-fgfr2-causes-facial-dysplasia-syndrome-in-holstein-cattle
#4
Jørgen S Agerholm, Fintan J McEvoy, Steffen Heegaard, Carole Charlier, Vidhya Jagannathan, Cord Drögemüller
BACKGROUND: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. RESULTS: Seven malformed calves were submitted examination...
August 2, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28766118/dental-and-craniofacial-findings-in-91-individuals-with-agenesis-of-permanent-maxillary-canines
#5
K P Arvedsen, I Kjær
AIM: Agenesis of maxillary permanent canines is a rare form of agenesis (prevalence 0.07-0.13%). The aetiology is still unknown. The purpose was to focus on dentitions and craniofacial profiles in individuals with maxillary canine agenesis. METHOD: From 91 individuals (10-18 years of age) 91 Orthopantomograms and 77 profile radiographs were divided accordingly: Group I: agenesis of 1 or 2 maxillary canines. Group II: several ageneses including the maxillary canines...
August 1, 2017: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/28757931/new-insights-in-orofacial-cleft-epidemiological-and-genetic-studies-on-italian-samples
#6
L Tettamanti, A Avantaggiato, M Nardone, A Palmieri, A Tagliabue
Cleft of the lip and/or palate (CL±P) is the most common congenital craniofacial anomaly affecting around 1 in 700 live births worldwide. Clefts of the human face can be classified anatomically as cleft lip only (CL), cleft palate only (CP), cleft lip and palate (CLP) or a combined group of cleft lip with or without cleft palate (CL±P), based on differences in embryologic development. CL±P has a genetic base and several linkage and association analyses have been performed in order to obtain important information about the role of candidate genes in its onset; not less important are gene-environment interactions that play an increasing role in its aetiology...
January 2017: Oral & Implantology
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#7
REVIEW
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28727977/the-vanishing-twin-syndrome-two-cases-of-extreme-malformations-associated-with-vanished-twins
#8
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
#9
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
#10
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
#11
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 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28689736/zebrafish-zic2-controls-formation-of-periocular-neural-crest-and-choroid-fissure-morphogenesis
#12
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...
September 1, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28684073/craniofacial-and-extracraniofacial-anomalies-in-craniofacial-macrosomia-a-multicenter-study-of-755-patients
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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 also. 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...
September 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
#19
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
#20
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
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