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https://www.readbyqxmd.com/read/28509418/review-article-sirenomelia-a-multi-systemic-polytopic-field-defect-with-ongoing-controversies
#1
REVIEW
Lucas L Boer, Eva Morava, Willemijn M Klein, Annelieke N Schepens-Franke, Roelof Jan Oostra
The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis...
May 16, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28504423/genetic-vulnerabilities-to-prenatal-alcohol-exposure-limb-defects-in-sonic-hedgehog-and-gli2-heterozygous-mice
#2
Eric W Fish, Laura B Murdaugh, Kathleen K Sulik, Kevin P Williams, Scott E Parnell
BACKGROUND: Genetic factors influence the physical and neurobehavioral manifestations of prenatal alcohol exposure (PAE). Animal models allow the investigation of specific genes that confer vulnerability to, or protection from, birth defects associated with fetal alcohol spectrum disorders (FASDs). The objective of the present experiments was to determine if genetic alterations in the Sonic Hedgehog (Shh) signaling pathways affect the vulnerability to PAE-induced skeletal defects involving the forelimbs and/or hindlimbs...
May 15, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28498341/replication-of-high-fetal-alcohol-spectrum-disorders-prevalence-rates-child-characteristics-and-maternal-risk-factors-in-a-second-sample-of-rural-communities-in-south-africa
#3
Philip A May, Marlene M De Vries, Anna-Susan Marais, Wendy O Kalberg, David Buckley, Colleen M Adnams, Julie M Hasken, Barbara Tabachnick, Luther K Robinson, Melanie A Manning, Heidre Bezuidenhout, Margaret P Adam, Kenneth L Jones, Soraya Seedat, Charles D H Parry, H Eugene Hoyme
Background: Prevalence and characteristics of fetal alcohol syndrome (FAS) and total fetal alcohol spectrum disorders (FASD) were studied in a second sample of three South African rural communities to assess change. Methods: Active case ascertainment focused on children with height, weight and/or head circumference ≤25th centile and randomly-selected children. Final diagnoses were based on dysmorphology, neurobehavioral scores, and maternal risk interviews. Results: Cardinal facial features, head circumference, and total dysmorphology scores differentiated specific FASD diagnostic categories in a somewhat linear fashion but all FASD traits were significantly worse than those of randomly-selected controls...
May 12, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28488957/cumulative-erythrocyte-damage-in-blood-storage-and-relevance-to-massive-transfusions-selective-insights-into-serial-morphological-and-biochemical-findings
#4
REVIEW
Jeffrey S Putter, Jerard Seghatchian
Elucidating the precise mechanisms of cumulative red cell damages during storage and the potential harmful consequences after transfusion are achievable by exacting laboratory science and well-defined clinical studies in progress. Accordingly, for larger magnitude blood transfusions (i.e. 8-12 U in 24 hours), the quality of the stored blood and its characterisation are of special academic and clinical importance. Our main objectives in this review are to illuminate facets of the red cell storage lesion for prolonged storage (0-42 days) by concentrating on various hallmarks of the disorder: 1) identifying and characterising serial markers of the progressive lesion with respect to red cell dysmorphology, deformability, haemolytic fragility and dysfunction both in storage and the microcirculation; and 2) relevant biochemical findings of redox status correlated to oxidative stress of erythrocyte proteins...
April 10, 2017: Blood Transfusion, Trasfusione del Sangue
https://www.readbyqxmd.com/read/28488459/classification-of-congenital-anomalies-of-the-hand-and-upper-limb
#5
M A Tonkin
The Oberg, Manske, Tonkin Classification of congenital anomalies of the hand and upper limb utilizes dysmorphological concepts to distinguish Malformations from Deformations and Dysplasias. Malformations are abnormalities of Formation and/or Differentiation of tissues. Deformations are abnormalities which occur after tissue is formed. Dysplasias are abnormalities which result from a lack of normal organization of cells into tissue. Malformations are sub-grouped according to whether the abnormality affects the hand alone or the whole of the upper limb; and according to which, if any, of the three main axes of development are primarily involved...
June 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28487520/an-ovine-hepatorenal-fibrocystic-model-of-a-meckel-like-syndrome-associated-with-dysmorphic-primary-cilia-and-tmem67-mutations
#6
C Stayner, C A Poole, S R McGlashan, M Pilanthananond, R Brauning, D Markie, B Lett, L Slobbe, A Chae, A C Johnstone, C G Jensen, J C McEwan, K Dittmer, K Parker, A Wiles, W Blackburne, A Leichter, M Leask, A Pinnapureddy, M Jennings, J A Horsfield, R J Walker, M R Eccles
Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p.(Ile681Asn; Ile687Ser) mutations identified in ovine TMEM67 were pathogenic in zebrafish phenotype rescue assays. Meckelin protein was expressed in affected and unaffected kidney epithelial cells by immunoblotting, and in primary cilia of lamb kidney cyst epithelial cells by immunofluorescence...
May 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28474389/developmental-functioning-and-medical-co-morbidity-profile-of-children-with-complex-and-essential-autism
#7
Jaimie Flor, Jayne Bellando, Maya Lopez, Amy Shui
Children with Autism Spectrum Disorders (ASD) may be characterized as "complex" (those with microcephaly and/or dysmorphology) or "essential" (those with neither of these two). Previous studies found subjects in the complex group exhibited lower IQ scores, poorer response to behavioral intervention, more seizures and more abnormal EEGs and brain MRIs compared to the essential group. The objective of this study was to determine if there are differences in complex versus essential subjects based on several developmental/psychological measures as well as certain medical comorbidities...
May 5, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28439719/radiological-imaging-of-teratological-fetuses-what-can-we-learn
#8
REVIEW
Lucas L Boer, A N Schepens-Franke, J J A van Asten, D G H Bosboom, K Kamphuis-van Ulzen, T L Kozicz, D J Ruiter, R-J Oostra, W M Klein
OBJECTIVES: To determine the advantages of radiological imaging of a collection of full-term teratological fetuses in order to increase their scientific and educational value. BACKGROUND : Anatomical museums around the world exhibit full-term teratological fetuses. Unfortunately, these museums are regularly considered as "morbid cabinets". Detailed dysmorphological information concerning the exhibited specimens is often lacking. Moreover, fetuses with severe and complex congenital anomalies are frequently diagnosed incompletely, incorrectly or not at all...
April 24, 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/28426184/alterations-in-mandibular-morphology-associated-with-glypican-1-and-glypican-3-gene-mutations
#9
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
#10
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...
June 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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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