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Dysmorphology

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https://www.readbyqxmd.com/read/28818479/a-structured-assessment-of-motor-function-behavior-and-communication-in-patients-with-wolf-hirschhorn-syndrome
#1
Heidi E Nag, David K Bergsaker, Bente S Hunn, Susanne Schmidt, Lise B Hoxmark
The present study aimed to increase the knowledge about Wolf-Hirschhorn syndrome (WHS), especially concerning motor function, autism spectrum disorders (ASD), and adapted behavior, but also regarding clinical symptoms in general. Motor function was evaluated via systematic observation. Standardized assessments such as the Vineland Adapted Behavior Scales II (VABS II), the Social Communication Questionnaire (SCQ), and the Child Behavior Checklist (CBCL) or Adult Behavior Checklist (ABCL) were used for the behavioral assessment...
August 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807008/phenotypic-and-molecular-characterisation-of-cdk13-related-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders
#2
Bret L Bostwick, Scott McLean, Jennifer E Posey, Haley E Streff, Karen W Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K Grange, Marisa V Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L Jefferies, Jill A Rosenfeld, Lisa Emrick, Kimberly M Nugent, James R Lupski, John W Belmont, Brendan Lee, Seema R Lalani
BACKGROUND: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder. METHODS: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts...
August 14, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28798667/the-foxp2-driven-network-in-developmental-disorders-and-neurodegeneration
#3
Franz Oswald, Patricia Klöble, André Ruland, David Rosenkranz, Bastian Hinz, Falk Butter, Sanja Ramljak, Ulrich Zechner, Holger Herlyn
The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neuroblastoma cells (SH-SY5Y) stably overexpressing FOXP2 cDNA of either humans or the common chimpanzee, Rhesus monkey, and marmoset, respectively. RNA-seq led to identification of 27 genes with differential regulation under the control of human FOXP2, which were previously reported to have FOXP2-driven and/or songbird song-related expression regulation...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#4
Beate Peter, Hope Lancaster, Caitlin Vose, Amna Fares, Isabelle Schrauwen, Matthew Huentelman
Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date...
August 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28756062/determining-the-frequency-of-morphological-characteristics-in-a-sample-of-brazilian-children
#5
Eduardo Perrone, Thais Arbocese Zanolla, Rodrigo Ambrósio Fock, Ana Beatriz Alvarez Perez, Décio Brunoni
OBJECTIVE: To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age, gender, and ethnicity. METHODS: This was a cross-sectional study that evaluated 239 children with typical development (between 3 and 13 years old) regarding the presence of 82 morphological characteristics. A previously described protocol, based on the London Dysmorphology Database, was applied to evaluate the sample...
July 27, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28727969/fetal-dysmorphology-still-an-essential-art-analysis-of-the-limitations-of-microarray-in-a-fetal-population-and-a-look-toward-the-genome-sequencing-era
#6
E Fletcher, M Porteous, K J McKenzie, E J Maher, M J Evans
Cytogenomic microarray allows assessment of the genome at higher resolutions than traditional karyotyping. The objective of this study is to evaluate the utility of microarray in a routine fetal autopsy setting before the advent of routine fetal exome/genome sequencing and the issues these technologies may generate. A systematic review of fetal postmortems at 12-24 weeks gestation between January 2011 and December 2014 was undertaken. Cases where there was no consent for audit, research, or genetic testing were excluded as were cases referred to the Procurator Fiscal, stillbirths, and neonatal deaths...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28723825/feasibility-of-conducting-autism-biomarker-research-in-the-clinical-setting
#7
Laura Sices, Katherine Pawlowski, Laura Farfel, Deirdre Phillips, Yamini Howe, David M Cochran, Roula Choueiri, Peter W Forbes, Stephanie J Brewster, Jean A Frazier, Ann Neumeyer, Carolyn Bridgemohan
OBJECTIVE: Recruitment and completion of research activities during regular clinical care has the potential to increase research participation in complex neurodevelopmental disorders. We evaluated the feasibility, and effect on clinical care, of conducting biomarker research within a subspecialty clinical visit for autism spectrum disorder (ASD). METHODS: Children, aged 5 to 10 years, were recruited by providers in ASD clinics at 5 institutions. Biomarkers collected were growth measurements, head circumference, neurologic and dysmorphology examinations, digit ratio (2D:4D) measurement, and platelet serotonin and urinary melatonin sulfate excretion levels...
July 14, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28704921/eys-mutations-causing-autosomal-recessive-retinitis-pigmentosa-changes-of-retinal-structure-and-function-with-disease-progression
#8
David B McGuigan, Elise Heon, Artur V Cideciyan, Rinki Ratnapriya, Monica Lu, Alexander Sumaroka, Alejandro J Roman, Vaishnavi Batmanabane, Alexandra V Garafalo, Edwin M Stone, Anand Swaroop, Samuel G Jacobson
Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), and en face autofluoresence imaging, a cohort of 15 patients (ages 12-51 at first visit), some of whom had longitudinal data of function and structure...
July 12, 2017: Genes
https://www.readbyqxmd.com/read/28693455/fainting-fanconi-syndrome-clarified-by-proxy-a-case-report
#9
Stephen Benedict Walsh, Robert Unwin, Robert Kleta, William Van't Hoff, Paul Bass, Khalid Hussain, Sian Ellard, Detlef Bockenhauer
BACKGROUND: Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses. CASE PRESENTATION: We report a case of renal Fanconi syndrome associated with intermittent hypoglycemic episodes, the specific cause for which remained elusive for over 30 years, despite numerous investigations, including three kidney and one liver biopsy...
July 11, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28672130/exposures-to-fine-particulate-matter-pm2-5-and-ozone-above-usa-standards-are-associated-with-auditory-brainstem-dysmorphology-and-abnormal-auditory-brainstem-evoked-potentials-in-healthy-young-dogs
#10
Lilian Calderón-Garcidueñas, Luis O González-González, Randy J Kulesza, Tatiana M Fech, Gabriela Pérez-Guillé, Miguel Angel Jiménez-Bravo Luna, Rosa Eugenia Soriano-Rosales, Edelmira Solorio, José de Jesús Miramontes-Higuera, Aline Gómez-Maqueo Chew, Alexia F Bernal-Morúa, Partha S Mukherjee, Ricardo Torres-Jardón, Paul C Mills, Wayne J Wilson, Beatriz Pérez-Guillé, Amedeo D'Angiulli
BACKGROUND: Delayed central conduction times in the auditory brainstem have been observed in Mexico City (MC) healthy children exposed to fine particulate matter (PM2.5) and ozone (O3) above the current United States Environmental Protection Agency (US-EPA) standards. MC children have α synuclein brainstem accumulation and medial superior olivary complex (MSO) dysmorphology. The present study used a dog model to investigate the potential effects of air pollution on the function and morphology of the auditory brainstem...
June 30, 2017: Environmental Research
https://www.readbyqxmd.com/read/28665667/dimensional-geometrical-and-physical-constraints-in-skull-growth
#11
Johannes Weickenmeier, Cedric Fischer, Dennis Carter, Ellen Kuhl, Alain Goriely
After birth, the skull grows and remodels in close synchrony with the brain to allow for an increase in intracranial volume. Increase in skull area is provided primarily by bone accretion at the sutures. Additional remodeling, to allow for a change in curvatures, occurs by resorption on the inner surface of the bone plates and accretion on their outer surfaces. When a suture fuses too early, normal skull growth is disrupted, leading to a deformed final skull shape. The leading theory assumes that the main stimulus for skull growth is provided by mechanical stresses...
June 16, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28661575/next-generation-phenotyping-in-emanuel-and-pallister-killian-syndrome-using-computer-aided-facial-dysmorphology-analysis-of-2d-photos
#12
Thomas Liehr, Nic Acquarola, Kate Pyle, Stephanie St-Pierre, Murney Rinholm, Omri Bar, Kathleen Wilhelm, Isolde Schreyer
High throughput approaches are continuously progressing and have become a major part of clinical diagnostics. Still, the critical process of detailed phenotyping and gathering clinical information has not changed much in the last decades. Forms of Next Generation Phenotyping (NGP) are needed to increase further the value of any kind of genetic approaches, including timely considering of (molecular) cytogenetics during the diagnostic quest. As NGP we used in this study the Facial Dysmorphology Novel Analysis (FDNA) technology to automatically identify facial phenotypes associated with Emanuel (ES) and Pallister-Killian Syndrome (PKS) from 2D facial photos...
June 29, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28660389/clinical-and-molecular-characterization-of-prader-willi-syndrome
#13
G N Sanjeeva, Madhuri Maganthi, Himabindu Kodishala, Rohit Kumar R Marol, Pooja S Kulshreshtha, Elisa Lorenzetto, Jayarama S Kadandale, Uros Hladnik, P Raghupathy, Meenakshi Bhat
OBJECTIVES: To describe the clinical presentations and molecular diagnosis to aid the clinicians in early diagnosis and appropriate management of Prader-Willi syndrome (PWS). METHODS: Thirty-four clinically diagnosed PWS cases were enrolled after obtaining informed consent/assent. Demographic details, clinical data and anthropometry were recorded using structured proforma. The facial dysmorphology was evaluated. Appropriate genetic testing was performed to confirm the diagnosis...
June 29, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28654618/evidence-based-medicine-nonsyndromic-craniosynostosis
#14
Youssef Tahiri, Scott P Bartlett, Mirko S Gilardino
LEARNING OBJECTIVES: After reading this article, the participant should be able to: 1. Understand the craniofacial dysmorphology associated with nonsyndromic craniosynostosis. 2. Understand the functional concerns and preoperative considerations when treating patients with nonsyndromic craniosynostosis. 3. Understand the various treatment options available to address patients with nonsyndromic craniosynostosis. 4. Recognize the current debate with regard to timing and type of surgical intervention, and their impact on patient outcome, for patients with nonsyndromic craniosynostosis...
July 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28643928/calvarial-bone-development-and-suture-closure-in-dicer-deficient-mice
#15
P Atsawasuwan, M Ouibaidin, B Dalal, H Khan, A Mohammed
OBJECTIVE: To evaluate whether lack of Dicer during calvaria development would lead to dysmorphology of calvaria and suture closure in mice. MATERIALS AND METHODS: A conditional Dicer deficient under Osx promoter mouse was employed in this study. The 4- and 10-week-old conditional Dicer-deficient mice control littermates and Osx-cre transgenic mice were studied for calvarial bone morphology and suture closure. Dry skull, microcomputed tomography (μCT), histological and gene expression studies were investigated to evaluate the effect of Dicer deficiency on calvarial bone morphology and their related genes during calvaria development...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28640243/in-depth-investigations-of-adolescents-and-adults-with-holoprosencephaly-identify-unique-characteristics
#16
Karin Weiss, Paul Kruszka, Maria J Guillen Sacoto, Yonit A Addissie, Donald W Hadley, Casey K Hadsall, Bethany Stokes, Ping Hu, Erich Roessler, Beth Solomon, Edythe Wiggs, Audrey Thurm, Robert B Hufnagel, Wadih M Zein, Jin S Hahn, Elaine Stashinko, Eric Levey, Debbie Baldwin, Nancy J Clegg, Mauricio R Delgado, Maximilian Muenke
PurposeWith improved medical care, some individuals with holoprosencephaly (HPE) are surviving into adulthood. We investigated the clinical manifestations of adolescents and adults with HPE and explored the underlying molecular causes.MethodsParticipants included 20 subjects 15 years of age and older. Clinical assessments included dysmorphology exams, cognitive testing, swallowing studies, ophthalmic examination, and brain magnetic resonance imaging. Genetic testing included chromosomal microarray, Sanger sequencing for SHH, ZIC2, SIX3, and TGIF, and whole-exome sequencing (WES) of 10 trios...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28624747/who-is-most-affected-by-prenatal-alcohol-exposure-boys-or-girls
#17
Philip A May, Barbara Tabachnick, Julie M Hasken, Anna-Susan Marais, Marlene M de Vries, Ronel Barnard, Belinda Joubert, Marise Cloete, Isobel Botha, Wendy O Kalberg, David Buckley, Zachary R Burroughs, Heidre Bezuidenhout, Luther K Robinson, Melanie A Manning, Colleen M Adnams, Soraya Seedat, Charles D H Parry, H Eugene Hoyme
OBJECTIVE: To examine outcomes among boys and girls that are associated with prenatal alcohol exposure. METHODS: Boys and girls with fetal alcohol spectrum disorders (FASD) and randomly-selected controls were compared on a variety of physical and neurobehavioral traits. RESULTS: Sex ratios indicated that heavy maternal binge drinking may have significantly diminished viability to birth and survival of boys postpartum more than girls by age seven...
August 1, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28612917/neonatal-exposure-to-monosodium-glutamate-results-in-dysmorphology-of-orofacial-lower-motor-neurons
#18
Lindsey Foran, Chloe Kupelian, Swati Laroia, Jeffrey Esper, Randy Joseph 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, high levels of 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. Neonatal exposure to MSG has been shown to result in neurodegeneration in several forebrain regions, characterized by neuronal loss and neuroendocrine abnormalities...
June 14, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28612047/wortmannin-attenuates-seizure-induced-hyperactive-pi3k-akt-mtor-signaling-impaired-memory-and-spine-dysmorphology-in-rats
#19
Angela N Carter, Heather A Born, Amber T Levine, An T Dao, Amanda J Zhao, Wai L Lee, Anne E Anderson
Numerous studies have shown epilepsy-associated cognitive deficits, but less is known about the effects of one single generalized seizure. Recent studies demonstrate that a single, self-limited seizure can result in memory deficits and induces hyperactive phosphoinositide 3-kinase/Akt (protein kinase B)/mechanistic target of rapamycin (PI3K/Akt/mTOR) signaling. However, the effect of a single seizure on subcellular structures such as dendritic spines and the role of aberrant PI3K/Akt/mTOR signaling in these seizure-induced changes are unclear...
May 2017: ENeuro
https://www.readbyqxmd.com/read/28589114/unexpected-findings-in-a-child-with-atypical-hemolytic-uremic-syndrome-an-example-of-how-genomics-is-changing-the-clinical-diagnostic-paradigm
#20
Eleanor G Seaby, Rodney D Gilbert, Gaia Andreoletti, Reuben J Pengelly, Catherine Mercer, David Hunt, Sarah Ennis
CBL is a tumor suppressor gene on chromosome 11 encoding a multivalent adaptor protein with E3 ubiquitin ligase activity. Germline CBL mutations are dominant. Pathogenic de novo mutations result in a phenotype that overlaps Noonan syndrome (1). Some patients with CBL mutations go on to develop juvenile myelomonocytic leukemia (JMML), an aggressive malignancy that usually necessitates bone marrow transplantation. Using whole exome sequencing methods, we identified a known mutation in CBL in a 4-year-old Caucasian boy with atypical hemolytic uremic syndrome, moyamoya phenomenon, and dysmorphology consistent with a mild Noonan-like phenotype...
2017: Frontiers in Pediatrics
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