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https://www.readbyqxmd.com/read/29331408/long-term-craniofacial-morphology-in-young-adults-treated-for-a-non-syndromal-uclp-a-systematic-review
#1
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/29326522/fragile-x-syndrome-a-rare-case-report-with-unusual-oral-features
#2
Prayas Ray, Arpanna Singh, Jayanta Kumar Dash, Prasanna Kumar Sahoo, Jitendra Kumar Dash
Fragile X syndrome (FXS) is a rare variant of special health-care need demonstrating delayed developmental milestones and associated with intellectual and emotional disabilities ranging from learning problem to mental retardation. The syndrome is usually not diagnosed until 8-9 years of age since the clinical manifestations of the syndrome are greatly attenuated in childhood. The physical characteristics such as facial features, hyperactivity, attention deficit, autistic behavior, and macroorchidism are quite evident in younger age group...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29313062/art-or-science-an-evidence-based-approach-to-human-facial-beauty-a-quantitative-analysis-towards-an-informed-clinical-aesthetic-practice
#3
REVIEW
Harpal Harrar, Simon Myers, Ali M Ghanem
BACKGROUND: Patients often seek guidance from the aesthetic practitioners regarding treatments to enhance their 'beauty'. Is there a science behind the art of assessment and if so is it measurable? Through the centuries, this question has challenged scholars, artists and surgeons. AIMS AND OBJECTIVES: This study aims to undertake a review of the evidence behind quantitative facial measurements in assessing beauty to help the practitioner in everyday aesthetic practice...
January 8, 2018: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/29288792/distal-deletion-at-22q11-2-as-differential-diagnosis-in-craniofacial-microsomia-case-report-and-literature-review
#4
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/29286995/the-americleft-project-comparison-of-ratings-using-two-dimensional-versus-three-dimensional-images-for-evaluation-of-nasolabial-appearance-in-patients-with-unilateral-cleft-lip-and-palate
#5
Christine M Jones, Benjamin Roth, Ana M Mercado, Kathy A Russell, John Daskalogiannakis, Thomas D Samson, Ronald R Hathaway, Andrea Smith, Donald R Mackay, Ross E Long
This study was conducted to determine if nasolabial appearance is rated with comparable results and reliability on 3-dimensional stereophotogrammetric facial images versus standard clinical photographs (2-dimensional). Twenty-seven consecutively treated patients with repaired complete unilateral cleft lip and palate were selected. Six trained and calibrated raters assessed cropped 2- and 3-dimensional facial images. Nasolabial profile, nasolabial frontal, and vermillion border esthetics were rated with the 5-point scale described by Asher-McDade using the modified Q-sort method...
January 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29276880/isolated-thoracoschisis-case-report
#6
Burak Ardıçlı, Ayşe Karaman, Ahmet Özyazıcı, Ayşegül Zenciroğlu, Nurullah Okumuş
Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N. Isolated thoracoschisis: Case report. Turk J Pediatr 2017; 59: 217-220. Thoracoschisis is a rare congenital anomaly that refers to a congenital fissure of the chest wall. It is frequently accompanied with other congenital defects of the limbs and the abdominal wall as part of the limb-body wall complex, which is exencephaly/encephalocele and facial clefts, thoracoschisis and/or abdominoschisis and limb defects. Isolated thoracoschisis is a rare entity...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29241932/prenatal-diagnosis-of-an-8q22-2-q23-3-deletion-associated-with-bilateral-cleft-lip-and-palate-and-intrauterine-growth-restriction-on-fetal-ultrasound
#7
Chih-Ping Chen, Tung-Yao Chang, Fang-Yu Hung, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chen-Chi Lee, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of an interstitial 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction (IUGR) on fetal ultrasound. CASE REPORT: A 29-year-old, primigravid woman underwent elective amniocentesis at 17 weeks of gestation because of anxiety. Amniocentesis revealed a karyotype of 46, XX. However, level II ultrasound at 21 weeks of gestation revealed a fetus with IUGR and bilateral cleft lip and palate...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29241927/prenatal-diagnosis-of-a-1-6-mb-4p16-3-interstitial-microdeletion-encompassing-fgfrl1-and-tacc3-associated-with-bilateral-cleft-lip-and-palate-of-wolf-hirschhorn-syndrome-facial-dysmorphism-and-short-long-bones
#8
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of a 4p16.3 interstitial microdeletion associated with bilateral cleft lip and palate and short long bones on prenatal ultrasound, and we discuss the genotype-phenotype correlation. MATERIALS AND METHODS: A 32-year-old woman underwent amniocentesis at 22 weeks of gestation because of bilateral cleft lip and palate and short limbs on prenatal ultrasound. Conventional cytogenetic analysis was performed on cultured amniocytes and parental bloods...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29240237/non-isolated-diaphragmatic-hernia-in-simpson-golabi-behmel-syndrome
#9
Karen Chong, Maha Saleh, Marie Injeyan, Ioana Miron, Katherine Fong, Patrick Shannon
OBJECTIVE: Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of non-isolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy and family history in confirming this diagnosis. METHOD: Retrospective review of three cases of SGBS type I in a single tertiary care centre...
December 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29239768/phenotypic-spectrum-of-tessier-facial-cleft-number-5
#10
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
#11
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/29230162/a-novel-de-novo-fzd2-mutation-in-a-patient-with-autosomal-dominant-omodysplasia
#12
Seval Türkmen, Malte Spielmann, Nilay Güneş, Alexej Knaus, Ricarda Flöttmann, Stefan Mundlos, Beyhan Tüysüz
We described a heterozygous de novo mutation (G434V) in the frizzled class receptor 2 (FZD2) gene in a patient with distinct facial features including hypertelorism, bilateral cleft lip/palate, short nose with a broad nasal bridge, microretrognathia, and bilateral shortness of the upper limbs, first metacarpal bones, and middle phalanges of the 5th digits. The findings of our patient were compared to an autosomal dominant omodysplasia (OMOD2) family with FZD2 mutation reported in the literature. OMOD2 is a rare skeletal dysplasia and characterized by facial dysmorphism and shortness of the upper extremities and first metacarpal bones...
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29194260/facial-anthropometric-evaluation-of-unilateral-cleft-lip-and-palate-patients-infancy-through-adolescence
#13
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/29192633/pattern-of-maxillofacial-surgical-conditions-in-north-central-nigeria-a-5-year-experience-of-an-indigenous-surgical-mission
#14
Seidu A Bello, Timothy Osodin, Ifeoluwa Oketade, Alwel-Brown Ibikari, Nosa Ighile, Deborah J Enebong, Paul Ekpa
BACKGROUND: Several publications have presented pattern of maxillofacial surgical conditions based on data from hospital-based studies. The objective of this study is to present the spectrum of maxillofacial surgical conditions from the perspective of a community study. METHODS: This is a prospective study of all patients seen and treated from 2011 to 2016. The information obtained included the biodata, clinical history of the disease conditions, radiological result, histopathologic result, diagnosis, and treatment records...
October 2017: Nigerian Journal of Clinical Practice
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/29175559/desmosterolosis-presenting-with-multiple-congenital-anomalies
#17
Mersedeh Rohanizadegan, Stephanie Sacharow
Desmosterolosis is a rare multiple congenital anomaly syndrome caused by defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis pathway. Defects in this enzyme cause increased level of the cholesterol precursor desmosterol while disrupting development of cholesterol, impacting embryogenesis. A total of 9 cases of desmosterolosis have been reported to date. We report a 20-month-old male from consanguineous parents with multiple congenital anomalies including corpus callosum hypoplasia, facial dysmorphism, cleft palate, pectus deformity, short, wide neck and distal contractures...
November 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29167708/tooth-abnormalities-in-individuals-with-unilateral-alveolar-clefts-a-comparison-between-sides-using-cone-beam-computed-tomography
#18
Bruno-Torres Bezerra, John-Nadson-Andrade Pinho, Luiz-Carlos-Ferreira da Silva
Background: Tooth abnormalities are most often present in individuals with oral clefts than general population, and lead to a long-term impact on facial anatomy and self-esteem. The purpose of this study was to compare the proportion of dental anomalies between the cleft side and non-cleft side in individuals with non-syndromic unilateral alveolar clefts (AC). Material and Methods: Twenty cone beam computed tomography (CBCT) scans were converted into three-dimensional (3D) virtual models...
October 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/29158593/facial-aesthetics-in-young-adults-after-cleft-lip-and-palate-treatment-over-five-decades
#19
K Sinko, J Cede, R Jagsch, A L Strohmayr, A McKay, W Mosgoeller, C Klug
Cleft Lip and Palate (CLP) - a common facial malformation in newborns - is typically corrected by surgical intervention to allow for normal speech development, psychosocial adjustment, and facial attractiveness. The long term treatment outcome can be evaluated after a number of years, possibly in adulthood. We investigated the aesthetics of the nasolabial region by subjective ratings. To compare various surgical approaches we recruited 12 raters to evaluate 429 patients. Expert and lay raters judged photographs from patients, who have completed treatment with one of three different surgical strategies performed in our institution over 50 years...
November 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29140903/cleft-related-orthognathic-surgery-based-on-maxillary-vertical-lengthening-of-the-anterior-facial-height
#20
Woo Shik Jeong, Hyung Hwa Jeong, Soon Man Kwon, Kyung S Koh, Jong Woo Choi
BACKGROUND: The conventional approach during orthognathic surgery for cleft-related deformities has largely focused on restoration of maxilla retrusion, using the maxillary advancement as a standard treatment objective. However, we thought the maxillary vertical shortening and deficient incisor show could be the additional key elements of cleft-related deformities. Although slight vertical lengthening can be obtained with only maxillary advancement, it would not be enough to obtain satisfactory aesthetical results in terms of the anterior facial height...
November 11, 2017: Plastic and Reconstructive Surgery
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