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Dysmorphology

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https://www.readbyqxmd.com/read/29590634/-mek1-y130c-mice-recapitulate-aspects-of-human-cardio-facio-cutaneous-syndrome
#1
Rifdat Aoidi, Nicolas Houde, Kim Landry-Truchon, Michael Holter, Kevin Jacquet, Louis Charron, Suguna Rani Krishnaswami, Benjamin D Yu, Katherine A Rauen, Nicolas Bisson, Jason Newbern, Jean Charron
The RAS/MAPK signaling pathway is one of the most investigated pathways, owing to its established role in numerous cellular processes and implication in cancer. Germline mutations in genes encoding members of the RAS/MAPK pathway also cause severe developmental syndromes collectively known as RASopathies. These syndromes share overlapping characteristics, including craniofacial dysmorphology, cardiac malformations, cutaneous abnormalities and developmental delay. Cardio-facio-cutaneous syndrome (CFC) is a rare RASopathy associated with mutations in BRAF , KRAS , MEK1 ( MAP2K1 ) and MEK2 ( MAP2K2 )...
March 13, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29580844/primary-maxillary-deficiency-dentofacial-deformities-occlusion-and-facial-esthetic-surgical-outcomes
#2
Jeffrey C Posnick, Sirish Makan, Daniel Bostock, Timothy J Tremont
PURPOSE: The purpose of this study was to document the malocclusion and facial dysmorphology in patients with primary maxillary deficiency (PMD) and chronic obstructive nasal breathing before treatment and the outcomes after bimaxillary orthognathic, genioplasty, and intranasal surgery. MATERIALS AND METHODS: A retrospective cohort study of patients with PMD undergoing bimaxillary orthognathic, chin, and intranasal surgery was implemented. The predictor variables were grouped into demographic, anatomic, operative, and longitudinal follow-up categories...
March 1, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29573576/toward-clinical-and-molecular-understanding-of-pathogenic-variants-in-the-zbtb18-gene
#3
Vyne van der Schoot, Sonja de Munnik, Hanka Venselaar, Mariet Elting, Grazia M S Mancini, Conny M A Ravenswaaij-Arts, Britt-Marie Anderlid, Han G Brunner, Servi J C Stevens
BACKGROUND: Patients with pathogenic variants in ZBTB18 present with Intellectual Disability (ID) with frequent co-occurrence of corpus callosum (CC) anomalies, hypotonia, microcephaly, growth problems and variable facial dysmorphologies. These features illustrate a key role for ZBTB18 in brain development. METHODS: Patients with a pathogenic variant in ZBTB18 were detected by diagnostic whole exome sequencing (WES) performed in our center. We reviewed the literature and used GeneMatcher to include other cases...
March 24, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29571612/kir2-1-is-important-for-efficient-bmp-signaling-in-mammalian-face-development
#4
Matthew T Belus, Madison A Rogers, Alaaeddin Elzubeir, Megan Josey, Steven Rose, Viktoria Andreeva, Pamela C Yelick, Emily A Bates
Mutations that disrupt the inwardly rectifying potassium channel Kir2.1 lead to Andersen-Tawil syndrome that includes periodic paralysis, cardiac arrhythmia, cognitive deficits, craniofacial dysmorphologies and limb defects. The molecular mechanism that underlies the developmental consequences of inhibition of these channels has remained a mystery. We show that while loss of Kir2.1 function does not affect expression of several early facial patterning genes, the domain in which Pou3f3 is expressed in the maxillary arch is reduced...
March 20, 2018: Developmental Biology
https://www.readbyqxmd.com/read/29539633/placentation-defects-are-highly-prevalent-in-embryonic-lethal-mouse-mutants
#5
Vicente Perez-Garcia, Elena Fineberg, Robert Wilson, Alexander Murray, Cecilia Icoresi Mazzeo, Catherine Tudor, Arnold Sienerth, Jacqueline K White, Elizabeth Tuck, Edward J Ryder, Diane Gleeson, Emma Siragher, Hannah Wardle-Jones, Nicole Staudt, Neha Wali, John Collins, Stefan Geyer, Elisabeth M Busch-Nentwich, Antonella Galli, James C Smith, Elizabeth Robertson, David J Adams, Wolfgang J Weninger, Timothy Mohun, Myriam Hemberger
Large-scale phenotyping efforts have demonstrated that approximately 25-30% of mouse gene knockouts cause intrauterine lethality. Analysis of these mutants has largely focused on the embryo and not the placenta, despite the crucial role of this extraembryonic organ for developmental progression. Here we screened 103 embryonic lethal and sub-viable mouse knockout lines from the Deciphering the Mechanisms of Developmental Disorders program for placental phenotypes. We found that 68% of knockout lines that are lethal at or after mid-gestation exhibited placental dysmorphologies...
March 14, 2018: Nature
https://www.readbyqxmd.com/read/29528026/aesthetic-surgery-in-transplant-patients-a-single-center-experience
#6
Burak Özkan, Abbas Albayati, Atilla Adnan Eyüboğlu, Ahmet Çağrı Uysal, Nilgun Markal Ertaş, Mehmet Haberal
OBJECTIVES: Transplant patients, like the nontransplant population, can have surgical interventions for body shape disorders. Studies on aesthetic surgeries in transplant patients are scarce. Our aim was to share our experiences with various aesthetic procedures in solid-organ transplant recipients. MATERIALS AND METHODS: Six (5 female, 1 male) transplant patients who received surgical corrections of the aging face, ptosis and lipodystrophy of the breast, and abdomen at the Baskent University Plastic Reconstructive and Aesthetic Surgery Department between 2010 and 2017 were included...
March 2018: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/29510209/repeated-prenatal-exposure-to-valproic-acid-results-in-auditory-brainstem-hypoplasia-and-reduced-calcium-binding-protein-immunolabeling
#7
Ryan Zimmerman, Raina Patel, Amanda Smith, Julio Pasos, Randy J Kulesza
Auditory dysfunction is a common occurrence in individuals with autism spectrum disorder (ASD). While most cases of ASD are of unknown etiology, in utero exposure to the antiepileptic valproic acid (VPA) significantly increases risk. We have previously identified significant dysmorphology and hypoplasia in the auditory brainstem of humans with ASD and rodents exposed to VPA in utero. Further, we have identified abnormal c-Fos immunolabeling patterns after exposure to pure tone stimuli in VPA-exposed animals...
March 3, 2018: Neuroscience
https://www.readbyqxmd.com/read/29481405/the-role-of-bipartition-distraction-in-the-treatment-of-apert-syndrome
#8
Graeme E Glass, Clifford F Ruff, Genevieve A J C Crombag, Melanie H A S Verdoorn, Martin Koudstaal, Freida Anguilla, Richard Hayward, Jonathan A Britto, Owase Jeelani, David J Dunaway
Apert syndrome is characterized by hypertelorism, a negative canthal axis, and central midfacial hypoplasia, resulting in a biconcave face. Bipartition distraction partially corrects these facial anomalies. This study investigates limitations of bipartition distraction using linear, angular, and geometric morphometric analysis. Preoperative and postoperative three-dimensional computed tomographic craniofacial constructs of 10 patients with Apert syndrome (aged 12 to 21 years) were annotated with 98 landmarks...
March 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29396915/p63-expression-plays-a-role-in-developmental-rate-embryo-size-and-local-morphogenesis
#9
Julia C Boughner, Matthijs C van Eede, Shoshana Spring, Lisa X Yu, Nasim Rostampour, R Mark Henkelman
BACKGROUND: The p63 gene is integral to the development of many body parts including limb, palate, teeth and urogenital tract. Loss of p63 expression may alter developmental rate, which is crucial to normal morphogenesis. To validate a novel, unbiased embryo phenotyping software tool, we tested whether delayed development contributes to the pathological phenotype of a p63 mouse mutant (p63-/- ). We quantified dysmorphology in p63-/- embryos and tested for universal growth delay relative to wild type (WT) embryos...
February 3, 2018: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/29375860/rare-48-xyyy-syndrome-case-report-and-review-of-the-literature
#10
Maryam Abedi, Arash Salmaninejad, Ebrahim Sakhinia
48, XYYY syndrome is a rare condition. A male with 32-year-old and three Y chromosomes is described. This syndrome is phenotypically similar to Klinefelter syndrome. In this patient, Semi-Klinefelter characteristics such as tall stature, teeth dysmorphology, long length of fingers, partial deformity of the joints, likewise mental health problems were obvious.
January 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29368410/recognition-of-clinical-characteristics-for-population-based-surveillance-of-fetal-alcohol-syndrome
#11
Jennifer G Andrews, Maureen K Galindo, F John Meaney, Argelia Benavides, Linnette Mayate, Deborah Fox, Sydney Pettygrove, Leslie O'Leary, Christopher Cunniff
BACKGROUND: The diagnosis of fetal alcohol syndrome (FAS) rests on identification of characteristic facial, growth, and central nervous system (CNS) features. Public health surveillance of FAS depends on documentation of these characteristics. We evaluated if reporting of FAS characteristics is associated with the type of provider examining the child. METHODS: We analyzed cases aged 7-9 years from the Fetal Alcohol Syndrome Surveillance Network II (FASSNetII). We included cases whose surveillance records included the type of provider (qualifying provider: developmental pediatrician, geneticist, neonatologist; other physician; or other provider) who evaluated the child as well as the FAS diagnostic characteristics (facial dysmorphology, CNS impairment, and/or growth deficiency) reported by the provider...
January 25, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29355488/smith-lemli-opitz-syndrome-in-a-newborn-infant-with-developmental-abnormalities-and-low-endogenous-cholesterol
#12
Yifei Yang, Lindsay Yassan, Edward Ki Yun Leung, Kiang-Teck J Yeo
BACKGROUND: Patients with Smith-Lemli-Opitz Syndrome (SLOS) have defective endogenous cholesterol synthesis, and present with decrease cholesterol levels and multiple developmental dysmorphologies. CASE DESCRIPTION: A newborn infant with normal XY karyotype and normal microarray was born with multiple developmental defects and ambiguous genitalia was diagnosed following biochemical genetic analysis of serum 7-DHC concentrations. The clinical course of the patient was further complicated by the comorbidities associated with SLOS and the bacterial infections...
January 16, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29336636/a-dysmorphology-based-systematic-approach-toward-perinatal-genetic-diagnosis-in-a-fetal-autopsy-series
#13
Shagun Aggarwal, Ashwani Tandon, Aneek Das Bhowmik, Jamal Mohamed Nurul Jain Safarulla, Ashwin Dalal
BACKGROUND: This retrospective study assesses the contribution of genetic disorders in fetuses undergoing postmortem evaluation and the performance of a clinical dysmorphology based systematic approach toward genetic diagnosis. MATERIALS AND METHODS: Ninety fetuses, including spontaneous losses and terminated pregnancies, underwent a postmortem evaluation including dysmorphological examination, radiological studies, and histopathological examination. Genetic testing including karyotyping, biochemical testing, Sanger sequencing, and exome sequencing were performed selectively...
February 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29301908/deletion-of-a-long-range-dlx5-enhancer-disrupts-inner-ear-development-in-mice
#14
Kenneth R Johnson, Leona H Gagnon, Cong Tian, Chantal M Longo-Guess, Benjamin E Low, Michael V Wiles, Amy E Kiernan
Distal enhancers are thought to play important roles in the spatiotemporal regulation of gene expression during embryonic development, but few predicted enhancer elements have been shown to affect transcription of their endogenous genes or to alter phenotypes when disrupted. Here, we demonstrate that a 123.6-kb deletion within the mouse Slc25a13 gene is associated with reduced transcription of Dlx5 , a gene located 660 kb away. Mice homozygous for the Slc25a13 deletion mutation [named hyperspin ( hspn )] have malformed inner ears and are deaf with balance defects, whereas previously reported Slc25a13 knockout mice showed no phenotypic abnormalities...
March 2018: Genetics
https://www.readbyqxmd.com/read/29297884/dysmorphology-and-the-eshg
#15
Dian Donnai
No abstract text is available yet for this article.
December 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29287646/craniofacial-morphology-in-women-with-class-i-occlusion-and-severe-maxillary-anterior-crowding
#16
COMPARATIVE STUDY
Misa Ikoma, Kazuhito Arai
INTRODUCTION: Our objective was to investigate craniofacial morphology in women with Class I occlusion and maxillary anterior crowding (MxAC) with bilateral palatal displacement of the lateral incisors and facial displacement of the canines. METHODS: Thirty-three women with normal occlusion (mean age, 20.7 ± 2.3 years) were selected as the control group, and 33 women with severe MxAC (mean age, 23.3 ± 3.8 years) with bilateral palatal and facial displacement of the lateral incisors and canines, respectively, were selected as the MxAC group...
January 2018: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/29280877/choanal-atresia-and-craniosynostosis-development-and-disease
#17
REVIEW
Kate M Lesciotto, Yann Heuzé, Ethylin Wang Jabs, Joseph M Bernstein, Joan T Richtsmeier
A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis...
January 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29216475/long-face-dentofacial-deformities-occlusion-and-facial-esthetic-surgical-outcomes
#18
Jeffrey C Posnick, Samuel Liu, Timothy J Tremont
PURPOSE: The purpose of this study was to document malocclusion and facial dysmorphology in a series of patients with long face (LF) and chronic obstructive nasal breathing before treatment and the outcomes after bimaxillary orthognathic, osseous genioplasty, and intranasal surgery. MATERIALS AND METHODS: A retrospective cohort study of patients with LF undergoing bimaxillary, chin, and intranasal (septoplasty and inferior turbinate reduction) surgery was implemented...
December 6, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29201594/translational-genetic-modelling-of-3d-craniofacial-dysmorphology-elaborating-the-facial-phenotype-of-neurodevelopmental-disorders-through-the-prism-of-schizophrenia
#19
REVIEW
John L Waddington, Stanislav Katina, Colm M P O'Tuathaigh, Adrian W Bowman
Purpose of Review: In the context of human developmental conditions, we review the conceptualisation of schizophrenia as a neurodevelopmental disorder, the status of craniofacial dysmorphology as a clinically accessible index of brain dysmorphogenesis, the ability of genetically modified mouse models of craniofacial dysmorphology to inform on the underlying dysmorphogenic process and how geometric morphometric techniques in mutant mice can extend quantitative analysis. Recent Findings: Mutant mice with disruption of neuregulin-1, a gene associated meta-analytically with risk for schizophrenia, constitute proof-of-concept studies of murine facial dysmorphology in a manner analogous to clinical studies in schizophrenia...
2017: Current Behavioral Neuroscience Reports
https://www.readbyqxmd.com/read/29187580/computer-aided-recognition-of-facial-attributes-for-fetal-alcohol-spectrum-disorders
#20
Matthew Valentine, Dustin C J Bihm, Lior Wolf, H Eugene Hoyme, Philip A May, David Buckley, Wendy Kalberg, Omar A Abdul-Rahman
OBJECTIVES: To compare the detection of facial attributes by computer-based facial recognition software of 2-D images against standard, manual examination in fetal alcohol spectrum disorders (FASD). METHODS: Participants were gathered from the Fetal Alcohol Syndrome Epidemiology Research database. Standard frontal and oblique photographs of children were obtained during a manual, in-person dysmorphology assessment. Images were submitted for facial analysis conducted by the facial dysmorphology novel analysis technology (an automated system), which assesses ratios of measurements between various facial landmarks to determine the presence of dysmorphic features...
December 2017: Pediatrics
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