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Dysmorphology

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https://www.readbyqxmd.com/read/29396915/p63-expression-plays-a-role-in-developmental-rate-embryo-size-and-local-morphogenesis
#1
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
#2
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
#3
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
#4
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
#5
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...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29301908/deletion-of-a-long-range-dlx5-enhancer-disrupts-inner-ear-development-in-mice
#6
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...
January 3, 2018: Genetics
https://www.readbyqxmd.com/read/29297884/dysmorphology-and-the-eshg
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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...
November 29, 2017: Pediatrics
https://www.readbyqxmd.com/read/29175558/a-complex-phenotype-in-a-family-with-a-pathogenic-sox3-missense-variant
#13
Anne M Jelsig, Birgitte R Diness, Sven Kreiborg, Katharina M Main, Vibeke A Larsen, Hanne Hove
Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). Yet, pathogenic point mutations seem to be extremely rare. We report a family with three affected males with several clinical features including mild intellectual disability, microphthalmia, coloboma, hypopituitarism, facial dysmorphology and dental anomalies, including microcephaly, retrognathia and a solitary median maxillary central incisor amongst other features...
November 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29162626/identification-of-isthmin-1-as-a-novel-clefting-and-craniofacial-patterning-gene-in-humans
#14
Lisa A Lansdon, Benjamin W Darbro, Aline L Petrin, Alissa M Hulstrand, Jennifer M Standley, Rachel B Brouillette, Abby Long, M Adela Mansilla, Robert A Cornell, Jeffery C Murray, Douglas W Houston, J Robert Manak
Orofacial clefts are one of the most common birth defects, affecting 1-2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to detect copy number variants that can be causative for complex diseases such as cleft lip and/or palate. Utilizing this technique on 97 non-syndromic cleft lip and palate cases and 43 cases with cleft palate only, we identified a heterozygous deletion of Isthmin 1 in one affected case, as well as a deletion in a second case which removes putative 3' regulatory information...
November 21, 2017: Genetics
https://www.readbyqxmd.com/read/29162437/mouse-model-of-alagille-syndrome-and-mechanisms-of-jagged1-missense-mutations
#15
Emma R Andersson, Indira V Chivukula, Simona Hankeova, Marika Sjöqvist, Yat Long Tsoi, Daniel Ramsköld, Jan Masek, Aiman Elmansuri, Anita Hoogendoorn, Elenae Vazquez, Helena Storvall, Julie Netušilová, Meritxell Huch, Björn Fischler, Ewa Ellis, Adriana Contreras, Antal Nemeth, Kenneth C Chien, Hans Clevers, Rickard Sandberg, Vitezslav Bryja, Urban Lendahl
BACKGROUND & AIMS: Alagille syndrome is a genetic disorder characterized by cholestasis, ocular abnormalities, characteristic facial features, heart defects, and vertebral malformations. Most cases are associated with mutations in JAGGED1 (JAG1), which encodes a Notch ligand, although it is not clear how these contribute to disease development. We aimed to develop a mouse model of Alagille syndrome to elucidate these mechanisms. METHODS: Mice with a missense mutation (H268Q) in Jag1 (Jag1+/Ndr mice) were outbred to a C3H/C57bl6 background to generate a mouse model for Alagille syndrome (Jag1Ndr/Ndr mice)...
November 20, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29161034/dynamic-glycosylation-governs-the-vertebrate-copii-protein-trafficking-pathway
#16
Nathan J Cox, Gokhan Unlu, Brittany J Bisnett, Thomas R Meister, Brett Condon, Peter M Luo, Tim J Smith, Michael Hanna, Abhishek Chhetri, Erik J Soderblom, Anjon Audhya, Ela W Knapik, Michael Boyce
The COPII coat complex, which mediates secretory cargo trafficking from the endoplasmic reticulum, is a key control point for subcellular protein targeting. Because misdirected proteins cannot function, protein sorting by COPII is critical for establishing and maintaining normal cell and tissue homeostasis. Indeed, mutations in COPII genes cause a range of human pathologies, including cranio-lenticulo-sutural dysplasia (CLSD), which is characterized by collagen trafficking defects, craniofacial abnormalities and skeletal dysmorphology...
November 21, 2017: Biochemistry
https://www.readbyqxmd.com/read/29153277/a-novel-rogdi-gene-mutation-is-associated-with-kohlschutter-tonz-syndrome
#17
Nalini Aswath, Sankar Narayanan Ramakrishnan, Nithya Teresa, Arvind Ramanathan
OBJECTIVE: Kohlschutter-tonz syndrome (KTS) is a rare neurodegenerative disorder that presents with seizures, developmental regression, characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta and dysmorphologies. Genetic analysis has identified loss-of-function mutations within the coding region of the ROGDI gene in KTS patients of European or Jewish decent. In the present study, we have investigated the genetic status of ROGDI in a fourteen year old South Indian patient of Dravidian race born to consanguineous parents, who was clinically diagnosed with KTS STUDY DESIGN: To confirm the clinical diagnosis of KTS in the patient, primers were designed flanking each of the 11 exons of the ROGDI gene...
October 12, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29146755/ocular-findings-in-loeys-dietz-syndrome
#18
Catharina Busch, Robert Voitl, Barbara Goergen, Tomasz Zemojtel, Petra Gehle, Daniel J Salchow
BACKGROUND: Loeys-Dietz syndrome (LDS), an autosomal-dominant connective tissue disorder, is characterised by systemic manifestations including arterial aneurysm and craniofacial dysmorphologies. Although ocular involvement in LDS has been reported, detailed information on those manifestations is lacking. METHODS: Retrospective chart review of patients with diagnosed LDS and comparison with age-matched control patients. RESULTS: Mean age was 37...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29146485/in-frame-variants-in-flna-proximal-rod-1-domain-associate-with-a-predominant-cardiac-valvular-phenotype
#19
Luis Fernández, Jair Tenorio, Coral Polo-Vaquero, Elena Vallespín, María Palomares-Bralo, Sixto García-Miñaúr, Fernando Santos-Simarro, Pedro Arias, Hernán Carnicer, Silvina Giannivelli, Juan Medina, Rosa Pérez-Piaya, Jorge Solís, Mónica Rodríguez, Alexandra Villagrá, Laura Rodríguez, Julián Nevado, Víctor Martínez-Glez, Karen E Heath, Pablo Lapunzina
INTRODUCTION AND OBJECTIVES: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype...
November 13, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29109170/l1-coupling-to-ankyrin-and-the-spectrin-actin-cytoskeleton-modulates-ethanol-inhibition-of-l1-adhesion-and-ethanol-teratogenesis
#20
Xiaowei Dou, Carrie Menkari, Rei Mitsuyama, Tatiana Foroud, Leah Wetherill, Peter Hammond, Michael Suttie, Xiaopan Chen, Shao-Yu Chen, Michael E Charness
Ethanol causes fetal alcohol spectrum disorders (FASD) partly by inhibiting cell adhesion mediated by the L1 neural cell adhesion molecule. Ethanol interacts with an alcohol binding pocket in the L1 extracellular domain (ECD), and dephosphorylation of S1248 in the L1 cytoplasmic domain (CD) renders L1 adhesion insensitive to inhibition by ethanol (L1 insensitive). The mechanism underlying this inside-out signaling is unknown. Here we show that phosphorylation of the human L1-CD at S1152, Y1176, S1181, and S1248 renders L1 sensitive to ethanol by promoting L1 coupling with ankyrin-G and the spectrin-actin cytoskeleton...
November 6, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
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