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craniofacial cleft

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https://www.readbyqxmd.com/read/29341488/gene-gene-interaction-between-msx1-and-tp63-in-asian-case-parent-trios-with-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#1
Dongjing Liu, Holger Schwender, Mengying Wang, Hong Wang, Ping Wang, Hongping Zhu, Zhibo Zhou, Jing Li, Tao Wu, Terri H Beaty
BACKGROUND: Small ubiquitin-like modification, also known as sumoylation, is a crucial post-translational regulatory mechanisms involved in development of the lip and palate. Recent studies reported two sumoylation target genes, MSX1 and TP63, to have achieved genome-wide level significance in tests of association with nonsyndromic clefts. Here, we performed a candidate gene analysis considering gene-gene and gene-environment interaction for SUMO1, MSX1, and TP63 to further explore the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P)...
January 17, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29331408/long-term-craniofacial-morphology-in-young-adults-treated-for-a-non-syndromal-uclp-a-systematic-review
#2
REVIEW
Isabelle F P M Kappen, Whitney R Yoder, Aebele B Mink van der Molen, Corstiaan C Breugem
Minimizing mid-facial growth impairment is one of the treatment goals in cleft lip and palate surgery. As growth of the maxilla extends into young adulthood, long-term evaluation is essential to make a comprehensive assessment of a treatment protocol. There are numerous treatment approaches for cleft lip/palate surgery, and most have the characteristic distinction between either an early or a late cleft palate closure. PRISMA guidelines were applied to explore the quality of the current literature and to identify treatment factors influencing long-term cephalometric outcomes...
December 13, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/29315004/identifying-psychosocial-risk-factors-among-families-of-children-with-craniofacial-conditions-validation-of-the-psychosocial-assessment-tool-craniofacial-version
#3
Canice E Crerand, Hillary M Kapa, Jennifer Litteral, Gregory D Pearson, Katherine Eastman, Richard E Kirschner
OBJECTIVE: To evaluate the psychometric properties of the Psychosocial Assessment Tool-Craniofacial Version (PAT-CV), a screening instrument for psychosocial risk in families of children with craniofacial conditions, and to examine risk classification of patients in a craniofacial population. DESIGN: Prospective, cross-sectional, single-center study. SETTING: Interdisciplinary cleft lip and palate/craniofacial center at a US children's hospital...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29310616/partial-trisomy-16q21%C3%A2-qter-due-to-an-unbalanced-segregation-of-a-maternally-inherited-balanced-translocation-46-xx-t-15-16-p13-q21-a-case-report-and-review-of-literature
#4
R Mishra, C S Paththinige, N D Sirisena, S Nanayakkara, U G I U Kariyawasam, V H W Dissanayake
BACKGROUND: Partial trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic features, and systemic malformations with limited post-natal survival. Most of the cases of partial trisomy 16q described in the scientific literature have reported only one, or less frequently two cardiac defects in the affected babies. Herein, we report a case of partial trisomy 16q21➔qter with multiple and complex cardiac defects that have not previously been reported in association with this condition...
January 8, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29303120/management-of-cleft-lip-and-palate-in-nigeria-a-survey
#5
V Akinmoladun, S Ademola, A Olusanya
BACKGROUND: Clefts of the lip and/or palate are the most common congenital craniofacial defects and second only to club foot among all congenital anomalies. The management of this condition is resource intensive due to the multidimensional needs. This survey was carried out to ascertain the current state of cleft management in Nigeria with emphasis on training, scope of management, and assessment of treatment outcome. MATERIALS AND METHODS: Structured questionnaires were administered to cleft surgeons based on professional and practitioners' register and the result of literature search for cleft surgeons whose names may not appear in the registers...
November 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29288792/distal-deletion-at-22q11-2-as-differential-diagnosis-in-craniofacial-microsomia-case-report-and-literature-review
#6
Samira Spineli-Silva, Luciana M Bispo, Vera L Gil-da-Silva-Lopes, Társis P Vieira
Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, - malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis...
December 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29246756/tessier-number-4-bilateral-craniofacial-cleft-associated-with-amniotic-band-syndrome-22-years-of-follow-up
#7
Camille Assouan, Béatrice Ambroise, Marie de Boutray, Daniel Labbé, Hervé Bénateau, Alexis Veyssiere
No abstract text is available yet for this article.
December 12, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29239768/phenotypic-spectrum-of-tessier-facial-cleft-number-5
#8
Caroline Racz, Stéphanie Dakpé, Natacha Kadlub, Sylvie Testelin, Bernard Devauchelle, Martin Rachwalski, Arnaud Picard
INTRODUCTION: Craniofacial clefts belong to the most disfiguring and rare congenital malformations of the face and among these, orbito-facial clefts constitute approximately 0.22 % of the cases with Tessier cleft number 5 being the least common. Our aim was to define the phenotypic spectrum for this subgroup to improve clinical management. METHODS: Our study group consisted of four patients which were treated at two different cleft centers. Retrospective chart review and anatomical analysis were conducted for each patient based on clinical evaluation and imaging studies...
January 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29238124/rare-craniofacial-cleft-in-a-dark-skinned-african-population
#9
O Olalekan Adeosun, Stephen Agbomhekhe Ogah
Background: Craniofacial clefts are congenital anomalies which pose a management challenge to cleft surgeons, especially in developing countries. The aim of this study is to share our experience regarding the management of these atypical facial clefts. Patients and Methods: This prospective study was carried out from May 2009 to May 2014 at Federal Medical Centre, Nguru, Nigeria. Diagnosis was based on clinical examination and Tessier classification was used to describe these clefts...
January 2017: Nigerian Medical Journal: Journal of the Nigeria Medical Association
https://www.readbyqxmd.com/read/29232056/associations-between-laterality-of-orofacial-clefts-and-medical-and-academic-outcomes
#10
Emily R Gallagher, Babette Siebold, Brent R Collett, Timothy C Cox, Verena Aziz, Michael L Cunningham
Patients with oral clefts have an increased risk of other malformations, syndromes, and lower academic performance in school. Few studies have investigated if laterality of clefts is associated with medical and academic outcomes. Oral clefts have nonrandom laterality, with left-sided clefts occurring approximately twice as often as right-sided clefts. Using a retrospective study design, we examined potential associations of cleft attributes and outcomes in patients with cleft lip with or without cleft palate (CL/P) born in 2003-2010 who were treated at the Seattle Children's Craniofacial Center...
December 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29218017/six2-plays-an-intrinsic-role-in-regulating-proliferation-of-mesenchymal-cells-in-the-developing-palate
#11
Dennis O Okello, Paul P R Iyyanar, William M Kulyk, Tara M Smith, Scott Lozanoff, Shaoping Ji, Adil J Nazarali
Cleft palate is a common congenital abnormality that results from defective secondary palate (SP) formation. The Sine oculis-related homeobox 2 (Six2) gene has been linked to abnormalities of craniofacial and kidney development. Our current study examined, for the first time, the specific role of Six2 in embryonic mouse SP development. Six2 mRNA and protein expression were identified in the palatal shelves from embryonic days (E)12.5 to E15.5, with peak levels during early stages of palatal shelf outgrowth...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29215449/seasonal-variation-of-orofacial-clefts
#12
Chrysis Sofianos, Efthimios A Christofides, Sibusiso E Phiri
BACKGROUND: Orofacial clefts represent the most common craniofacial malformation diagnosed at birth and may be divided into isolated cleft lip (CL), cleft lip and palate (CL/P), or isolated cleft palate (CP). The causes of orofacial clefts have long been understood to be multifactorial; however, research into the genetic and environmental factors underpinning these disorders in African populations is scant. Seasonal variation in the occurrence of orofacial clefts was investigated. Seasonal variation is defined as differences due to periodic, temporal, and external influences, namely the particular time or season of the year...
December 6, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29198724/monoallelic-bmp2-variants-predicted-to-result-in-haploinsufficiency-cause-craniofacial-skeletal-and-cardiac-features-overlapping-those-of-20p12-deletions
#13
Tiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, Kevin A Strauss, Karlla Brigatti, Erik Puffenberger, Dong Li, LiQin Xie, Nanditha Das, Ioanna Skubas, Ron A Deckelbaum, Virginia Hughes, Susannah Brydges, Sarah Hatsell, Chia-Jen Siao, Melissa G Dominguez, Aris Economides, John D Overton, Valerie Mayne, Peter J Simm, Bryn O Jones, Stefanie Eggers, Gwenaël Le Guyader, Fanny Pelluard, Tobias B Haack, Marc Sturm, Angelika Riess, Stephan Waldmueller, Michael Hofbeck, Katharina Steindl, Pascal Joset, Anita Rauch, Hakon Hakonarson, Naomi L Baker, Peter G Farlie
Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology. Monoallelic deletions of 20p12 are variably associated with cleft palate, short stature, and developmental delay. Here, we report a cranioskeletal phenotype due to monoallelic truncating and frameshift BMP2 variants and deletions in 12 individuals from eight unrelated families that share features of short stature, a recognizable craniofacial gestalt, skeletal anomalies, and congenital heart disease...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29194260/facial-anthropometric-evaluation-of-unilateral-cleft-lip-and-palate-patients-infancy-through-adolescence
#14
Mahboobe Dehghani, Arezoo Jahanbin, Maryam Omidkhoda, Mostafa Entezari, Elaheh Shadkam
INTRODUCTION: Craniofacial anthropometric studies measure the differences in humans' craniofacial dimensions. The aim of this study was to determine facial anthropometric dimensions of newborn to 12-year-old girls with nonsyndromic unilateral cleft lip and palate (UCLP). METHODS: In this cross-sectional analytical study, data was collected from 65 infant to 12-year old girls with UCLP. Digital frontal and profile facial photographs were transferred to a computer and desired anthropometric landmarks were traced on each image...
November 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29184738/nasal-duplication-combined-with-cleft-lip-and-palate-surgical-correction-and-long-term-follow-up
#15
Kanharith Long, Kazuaki Yamaguchi, Daniel Lonic, Vanna Long, Vuthy Chhoeurn, Lun-Jou Lo
Background: Diprosopus dirrhinus, or nasal duplication, is a rare entity of partial craniofacial duplication. Methods: The case we present is the first report of diprosopus dirrhinus associated with complete cleft lip and palate. The baby was born in Cambodia at full term by normal vaginal delivery with no significant perinatal and family history. Physical examination revealed significant facial deformity due to the duplicated nose and the left complete cleft lip/palate on the right subset...
October 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29179776/translation-and-cultural-adaptation-of-the-cleft-q-for-use-in-colombia-chile-and-spain
#16
Elena Tsangaris, Karen W Y Wong Riff, Federico Vargas, Mirta Palomares Aguilera, Macarena Miranda Alarcón, Asteria Albert Cazalla, Lehana Thabane, Achilleas Thoma, Anne F Klassen
BACKGROUND: Cleft lip and/or palate (CL/P) is a common congenital craniofacial anomaly that may negatively affect an individual's appearance, health-related quality of life, or speech. In Spain, Colombia, and Chile the overall prevalence of CL/P ranges from 0.53 to 1.59 cases per 1000 live births. Currently, there is no patient-reported outcome (PRO) instrument that is specific for patients with CL/P. The CLEFT-Q is a new PRO instrument developed to measure outcomes of treatment in patients 8 to 29 years of age with CL/P...
November 28, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/29179385/policy-on-the-management-of-patients-with-cleft-lip-palate-and-other-craniofacial-anomalies
#17
(no author information available yet)
No abstract text is available yet for this article.
September 15, 2017: Pediatric Dentistry
https://www.readbyqxmd.com/read/29173718/a-pediatrician-s-guide-to-communication-disorders-secondary-to-cleft-lip-palate
#18
REVIEW
Ann W Kummer
This article describes how different types of clefts affect the child's function and, in particular, the child's communication abilities. This article also describes the evaluation process and various options for the treatment of affected speech. Because these children have many complicated needs over their entire growth period, it is important that they are referred by the pediatrician to a cleft palate/craniofacial team for the best care and best ultimate outcomes.
February 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29164113/chemokine-signaling-during-midline-epithelial-seam-disintegration-facilitates-palatal-fusion
#19
Christiaan M Suttorp, Niels A Cremers, René van Rheden, Raymond F Regan, Pia Helmich, Sven van Kempen, Anne M Kuijpers-Jagtman, Frank A D T G Wagener
Disintegration of the midline epithelial seam (MES) is crucial for palatal fusion, and failure results in cleft palate. Palatal fusion and wound repair share many common signaling pathways related to epithelial-mesenchymal cross-talk. We postulate that chemokine CXCL11, its receptor CXCR3, and the cytoprotective enzyme heme oxygenase (HO), which are crucial during wound repair, also play a decisive role in MES disintegration. Fetal growth restriction and craniofacial abnormalities were present in HO-2 knockout (KO) mice without effects on palatal fusion...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/29162626/identification-of-isthmin-1-as-a-novel-clefting-and-craniofacial-patterning-gene-in-humans
#20
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
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