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https://www.readbyqxmd.com/read/28426184/alterations-in-mandibular-morphology-associated-with-glypican-1-and-glypican-3-gene-mutations
#1
M Mian, S Ranjitkar, G C Townsend, P J Anderson
OBJECTIVES: Glypican 1 (GPC1) and glypican 3 (GPC3) are bone co-regulators that act downstream in many of the signalling pathways associated with craniosynostosis. Morphometric data from GPC-knockout mice were analysed to determine whether elimination of GPC1 and GPC3 genes would alter mandibular morphology. SETTING AND SAMPLE POPULATION: The murine model included five male and five female mandibles in each of GPC1-knockout, GPC1/GPC3-knockout and wild-type (control) groups...
April 20, 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28407396/a-further-family-of-stromme-syndrome-carrying-cenpf-mutation
#2
Ferda Ozkinay, Tahir Atik, Esra Isik, Zeliha Gormez, Mahmut Sagiroglu, Ozlem Atan Sahin, Nergul Corduk, Huseyin Onay
Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to "apple peel" intestinal atresia had been noted...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28384736/examining-a-new-method-to-studying-velopharyngeal-structures-in-a-child-with-22q11-2-deletion-syndrome
#3
Lakshmi Kollara, Graham Schenck, Michael Jaskolka, Jamie L Perry
Purpose: To date, no studies have imaged the velopharynx in children with 22q11.2 deletion syndrome (22q11.2 DS) without the use of sedation. Dysmorphology in velopharyngeal structures has been shown to have significant negative implications on speech among these individuals. This single case study was designed to assess the feasibility of a child-friendly magnetic resonance imaging (MRI) scanning protocol in this clinically challenging population and to determine the utility of this MRI protocol for future work in this area...
April 6, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#4
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28341476/panel-based-clinical-genetic-testing-in-85-children-with-inherited-retinal-disease
#5
Rachel L Taylor, Neil R A Parry, Stephanie J Barton, Christopher Campbell, Claire M Delaney, Jamie M Ellingford, Georgina Hall, Claire Hardcastle, Jiten Morarji, Elisabeth J Nichol, Lindsi C Williams, Sofia Douzgou, Jill Clayton-Smith, Simon C Ramsden, Vinod Sharma, Susmito Biswas, I Chris Lloyd, Jane L Ashworth, Graeme C Black, Panagiotis I Sergouniotis
PURPOSE: To assess the clinical usefulness of genetic testing in a pediatric population with inherited retinal disease (IRD). DESIGN: Single-center retrospective case series. PARTICIPANTS: Eighty-five unrelated children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016. METHODS: Participants underwent a detailed ophthalmic examination, accompanied by electrodiagnostic testing (EDT) and dysmorphologic assessment where appropriate...
March 21, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28302550/the-22q11-2-deletion-syndrome-in-congenital-heart-defects-prevalence-of-microdeletion-syndrome-in-cameroon
#6
Ambroise Wonkam, Ricardo Toko, David Chelo, Cedrik Tekendo-Ngongang, Samuel Kingue, Sophie Dahoun
BACKGROUND: The 22q11.2 deletion syndrome is amongst the most common microdeletion syndrome in humans. Its prevalence remains unknown in sub-Saharan Africa, and its clinical features are under-reported for people of African descent. OBJECTIVE: We have investigated the prevalence of the 22q11.2 deletion syndrome in patients with congenital heart defects in Cameroon. METHODS: A total of 70 of 100 cases of congenital cardiac malformation with echocardiographic evidence were examined prospectively and tested for the 22q11...
March 13, 2017: Global Heart
https://www.readbyqxmd.com/read/28272663/neu-laxova-syndrome-an-unusual-association-with-kyphosis
#7
Amandeep Kaur, Vijayalaxmi Suranagi, Kamal Patil, Hema Bannur
The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28258919/a-novel-computer-system-for-the-evaluation-of-nasolabial-morphology-symmetry-and-aesthetics-after-cleft-lip-and-palate-treatment-part-2-comparative-anthropometric-analysis-of-patients-with-repaired-unilateral-complete-cleft-lip-and-palate-and-healthy-individuals
#8
Piotr Pietruski, Marcin Majak, Elzbieta Pawlowska, Adam Skiba, Boguslaw Antoszewski
PURPOSE: The aim of this study was to use a novel system, 'Analyse It Doc' (A.I.D.) for a complex anthropometric analysis of the nasolabial region in patients with repaired unilateral complete cleft lip and palate and in healthy individuals. MATERIALS AND METHODS: A set of standardized facial photographs in frontal, lateral and submental view have been taken in 50 non-cleft controls (mean age 20.6 years) and 42 patients with repaired unilateral complete cleft and palate (mean age 19...
January 31, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28256683/-autism-the-importance-of-dysmorphology-in-the-identification-of-associated-medical-conditions
#9
V L Ruggieri, C L Arberas
INTRODUCTION: Autism spectrum disorders (ASD) are characterized by deficits in communication and social interaction, associated with restricted interests and stereotyped behaviors. Considered as a neurodepelopment disorders, they present a recognized neurobiological basis. Genetic causes as chromosomes abnormalities, or genetic defects are the most recognized etiologies, followed by the environmental factors. DEVELOPMENT: Dysmorphia are congenital alterations of the shape of a part of a living being, produced during its development...
February 24, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28212130/periorbital-soft-tissue-anthropometric-analysis-of-young-adults
#10
Turan Ozdemir, Fatma Ezgi Can, Sefa Isiklar, Ilker Ercan, Nedim Simsek Cankur
The authors aim to determine the periorbital soft tissue anthropometric norms for Turkish young adults for right and left eyes using a noninvasive two-dimensional photogrammetric analysis. Anthropometric measurements of the periorbital soft tissue were taken from 172 female and 56 male Turkish adults aged between 18 and 24 years. The periorbital soft tissue profiles (ocular and palpebral) for males and females were digitally analyzed using linear measurements made with standardized photographic records, taken in a natural head position...
February 16, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28209493/quantitative-analysis-of-fetal-facial-morphology-using-3d%C3%A2-ultrasound-and-statistical-shape-modeling-a%C3%A2-feasibility%C3%A2-study
#11
Andrea Dall'Asta, Silvia Schievano, Jan L Bruse, Gowrishankar Paramasivam, Christine Tita Kaihura, David Dunaway, Christoph C Lees
BACKGROUND: The antenatal detection of facial dysmorphism using 3-dimensional ultrasound may raise the suspicion of an underlying genetic conditions but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and noninvasive prenatal testing, not all genetic conditions can be ascertained from such testing. OBJECTIVES: The aim of this study was to investigate the feasibility of quantitative assessment of fetal face features using prenatal 3-dimensional ultrasound volumes and statistical shape modeling...
February 14, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28159942/dysmorphism-in-non-syndromic-autism-a-cross-sectional-study
#12
Susan Mary Zachariah, Samuel Philip Oommen, Caroline Sanjeev Padankatti, Hannah Grace, Lincy Glory
OBJECTIVE: To determine the effect of association of dysembryogenesis (manifested by presence of dysmorphic markers) on the developmental profile of autistic children. METHODS: 26 autistic children were classified into complex autism (if they had specific dysmorphic markers) or essential autism (in the absence of dysmorphic markers) using the Miles Autism Dysmorphology Measure (ADM). The developmental abilities (Griffith's Mental Development Scales) and the clinical severity (Childhood Autism Rating Scale) of both groups were compared...
February 2, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28156213/structural-brain-differences-in-school-age-children-with-and-without-single-suture-craniosynostosis
#13
Kristina Aldridge, Brent R Collett, Erin R Wallace, Craig Birgfeld, Jordan R Austin, Regina Yeh, Madison Feil, Kathleen A Kapp-Simon, Elizabeth H Aylward, Michael L Cunningham, Matthew L Speltz
OBJECTIVE Single-suture craniosynostosis (SSC), the premature fusion of a cranial suture, is characterized by dysmorphology of the craniofacial skeleton. Evidence to suggest that children with SSC are at an elevated risk of mild to moderate developmental delays and neurocognitive deficits is mounting, but the associations among premature suture fusion, neuroanatomy, and neurocognition are unexplained. The goals of this study were to determine 1) whether differences in the brain are present in young children with the 2 most common forms of SSC (sagittal and metopic) several years following surgical correction, and 2) whether the pattern of differences varies by affected suture (sagittal or metopic)...
April 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28123344/deformed-skull-morphology-is-caused-by-the-combined-effects-of-the-maldevelopment-of-calvarias-cranial-base-and-brain-in-fgfr2-p253r-mice-mimicking-human-apert-syndrome
#14
Fengtao Luo, Yangli Xie, Wei Xu, Junlan Huang, Siru Zhou, Zuqiang Wang, Xiaoqing Luo, Mi Liu, Lin Chen, Xiaolan Du
Apert syndrome (AS) is a common genetic syndrome in humans characterized with craniosynostosis. Apert patients and mouse models showed abnormalities in sutures, cranial base and brain, that may all be involved in the pathogenesis of skull malformation of Apert syndrome. To distinguish the differential roles of these components of head in the pathogenesis of the abnormal skull morphology of AS, we generated mouse strains specifically expressing mutant FGFR2 in chondrocytes, osteoblasts, and progenitor cells of central nervous system (CNS) by crossing Fgfr2(+/P253R-Neo) mice with Col2a1-Cre, Osteocalcin-Cre (OC-Cre), and Nestin-Cre mice, respectively...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28121881/the-severity-of-deformity-in-metopic-craniosynostosis-is-correlated-with-the-degree-of-neurologic-dysfunction
#15
Jenny F Yang, Eric D Brooks, Peter W Hashim, Hannah S Reuman, Roberto Travieso, Jordan Terner, Linda C Mayes, Derek M Steinbacher, John A Persing, James C McPartland
BACKGROUND: In recent years, metopic synostosis has represented up to 25 percent of all nonsyndromic craniosynostosis cases, manifesting with varying degrees of trigonocephaly. It is unknown whether the degree of severity of anterior dysmorphology is proportionate to neurologic dysfunction. This knowledge is essential to guide future surgical treatment recommendations. Given the reported correlation of abnormal auditory processing with future language dysfunction and poorer academic performance in craniosynostosis patients, the present study aims to evaluate auditory processing in preoperative patients with moderate and severe metopic synostosis, and in control infants, to discern the neurologic risk carried by different severities of trigonocephaly...
February 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28087338/auditory-hindbrain-atrophy-and-anomalous-calcium-binding-protein-expression-after-neonatal-exposure-to-monosodium-glutamate
#16
Lindsey Foran, Kaitlyn Blackburn, Randy J Kulesza
Glutamate is the most abundant excitatory neurotransmitter in the central nervous system, and is stored and released by both neurons and astrocytes. Despite the important role of glutamate as a neurotransmitter, elevated extracellular glutamate can result in excitotoxicity and apoptosis. Monosodium glutamate (MSG) is a naturally occurring sodium salt of glutamic acid that is used as a flavor enhancer in many processed foods. Previous studies have shown that MSG administration during the early postnatal period results in neurodegenerative changes in several forebrain regions, characterized by neuronal loss and neuroendocrine abnormalities...
March 6, 2017: Neuroscience
https://www.readbyqxmd.com/read/28050601/progeroid-syndrome-patients-with-zmpste24-deficiency-could-benefit-when-treated-with-rapamycin-and-dimethylsulfoxide
#17
Baris Akinci, Shireesha Sankella, Christopher Gilpin, Keiichi Ozono, Abhimanyu Garg, Anil K Agarwal
Patients with progeroid syndromes such as mandibuloacral dysplasia, type B (MADB) and restrictive dermopathy (RD) harbor mutations in zinc metalloproteinase (ZMPSTE24), an enzyme essential for posttranslational proteolysis of prelamin A to form mature lamin A. Dermal fibroblasts from these patients show increased nuclear dysmorphology and reduced proliferation; however, the efficacy of various pharmacological agents in reversing these cellular phenotypes remains unknown. In this study, fibroblasts from MADB patients exhibited marked nuclear abnormalities and reduced proliferation that improved upon treatment with rapamycin and dimethylsulfoxide but not with other agents, including farnesyl transferase inhibitors...
January 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28046103/transcriptome-profiling-identifies-ribosome-biogenesis-as-a-target-of-alcohol-teratogenicity-and-vulnerability-during-early-embryogenesis
#18
Mark E Berres, Ana Garic, George R Flentke, Susan M Smith
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Using an established avian model, we characterized the cranial transcriptome in response to alcohol to inform the mechanism underlying these cells' vulnerability...
2017: PloS One
https://www.readbyqxmd.com/read/28018436/chromosome-11q13-deletion-syndrome
#19
Yu-Seon Kim, Gun-Ha Kim, Jung Hye Byeon, So-Hee Eun, Baik-Lin Eun
Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28005777/virtual-surgery-planning-in-orthomorphic-correction-of-mandibular-dysmorphology
#20
Harsh Pipalia, Praveen Ganesh, Samarth Shetty, Paul C Salins, Rohan Raut, Kiran Kumar Boyina
Three-dimensional virtual surgery programs are widely available for orthognathic surgery. The advent of imaging software programs has proved to be useful for diagnosis, treatment planning, outcome measurement, and three-dimensional surgical simulation. Complex maxillofacial malformations continue to present challenges in analysis and correction beyond modern technology. Orthomorphic correction for mandibular dysmorphology refers to basal bone movement without any change in dental component. The purpose of this paper is to present a virtual surgery planning for surgeons to perform the orthomorphic surgery with precision and quantification...
November 2016: Journal of Craniofacial Surgery
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