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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/29329674/long-term-esthetic-outcomes-of-patients-with-cleft-lip-and-palate-have-improved-over-time
#2
Romina Brignardello-Petersen
No abstract text is available yet for this article.
January 4, 2018: Journal of the American Dental Association
https://www.readbyqxmd.com/read/29329488/genetic-and-molecular-insights-into-genotype-phenotype-relationships-in-osteopathia-striata-with-cranial-sclerosis-oscs-through-the-analysis-of-novel-mouse-wtx-mutant-alleles
#3
Glenda Comai, Agnès Boutet, Kristina Tanneberger, Filippo Massa, Ana-Sofia Rocha, Aurelie Charlet, Clara Panzolini, Fariba Jian Motamedi, Robert Brommage, Wolfgang Hans, Thomas Funck-Brentano, Martin Hrabe de Angelis, Christine Hartmann, Martine Cohen-Solal, Jürgen Behrens, Andreas Schedl
The X-linked WTX/AMER1 protein forms an important component of the β-catenin destruction complex that can both enhance and suppress canonical β-catenin signalling. Somatic mutations in WTX/AMER1 have been found in a proportion of the pediatric kidney cancer Wilms' tumour. By contrast, germline mutations cause the severe sclerosing bone dysplasia osteopathia striata congenita with cranial sclerosis (OSCS), a condition usually associated with fetal or perinatal lethality in male patients. Here we addressed the developmental and molecular function of WTX by generating two novel mouse alleles...
January 12, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29326522/fragile-x-syndrome-a-rare-case-report-with-unusual-oral-features
#4
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/29324922/autologous-free-fat-transfer-in-patients-with-velopharyngeal-insufficiency
#5
Pericles Foroglou, Olga Christina Goula, Antonis Tsimponis, Elena Georgiadou, Efterpi Demiri
AIM: To report our initial experience and preliminary results of autologous free fat transfer to improve speech and hypernasality in patients with velopharyngeal insufficiency (VPI) as a sequela of cleft lip and palate repair. MATERIAL AND METHODS: To date 2 patients with a mean age of 25 years were treated with this method. Both had initially received multiple procedures elsewhere for cleft lip and palate repair. We recorded the number of free fat transfer sessions, anatomical places of placement and volumes injected in-patient stay, occurrence or absence of complications and effectiveness of this operation in terms of clinical speech evaluation, functional velopharyngeal closure measurements and speech improvement percentage by an Ear, Nose and Throat (ENT) specialist...
September 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29322637/maternal-exposures-and-risk-of-oral-clefts-in-south-vietnam
#6
Vu H A Dien, Christy M McKinney, Araya Pisek, Waranuch Pitiphat
BACKGROUND: Oral clefts are among the most common congenital anomalies. Most studies on risk factors of oral clefts have been carried out in developed countries. We investigated the associations between maternal exposures in the first trimester and oral clefts in South Vietnam. METHODS: We conducted a hospital-based case-control study during October 2014-November 2015. Cases included 170 patients with nonsyndromic cleft lip with or without cleft palate and those with cleft palate only...
January 11, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29317601/common-basis-for-orofacial-clefting-and-cortical-interneuronopathy
#7
Lydia J Ansen-Wilson, Joshua L Everson, Dustin M Fink, Henry W Kietzman, Ruth Sullivan, Robert J Lipinski
Orofacial clefts (OFCs) of the lip and/or palate are among the most common human birth defects. Current treatment strategies focus on functional and cosmetic repair but even when this care is available, individuals born with OFCs are at high risk for persistent neurobehavioral problems. In addition to learning disabilities and reduced academic achievement, recent evidence associates OFCs with elevated risk for a constellation of psychiatric outcomes including anxiety disorders, autism spectrum disorder, and schizophrenia...
January 10, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29317143/predictors-of-speech-outcomes-in-children-with-pierre-robin-sequence
#8
Anne Morice, Francis Renault, Véronique Soupre, Cécile Chapuis, Chantal Trichet Zbinden, Natacha Kadlub, Amerigo Giudice, Marie-Paule Vazquez, Arnaud Picard
BACKGOUND: Pierre Robin sequence (PRS) has worse speech outcomes than isolated cleft palate. We aimed to search for possible associations of phonological outcomes with PRS status (isolated vs syndromic), clinical severity, soft palate muscles deficiency, or surgical procedure. METHODS: We designed a retrospective study of 130 children (male/female ratio: 0.4) with isolated (96) or syndromic (34) PRS with cleft palate. Grading systems were used to classify retrognathia, glossoptosis, and respiratory and feeding disorders...
December 13, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29316356/plasma-zinc-levels-in-ecuadorian-mothers-of-infants-with-nonsyndromic-cleft-lip-with-or-without-cleft-palate-a-case-series
#9
Miguel Ángel Jara-Palacios, Angélica Carolina Cornejo, Camila Narváez-Caicedo, Gabriela Moreano, Karla Patricia Vásquez, Cristina Moreno-Izquierdo, Natalia Romero-Sandoval
BACKGROUND: Previous studies have reported an association between maternal zinc deficiency and increased risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in offspring. A high prevalence of zinc deficiency and a high prevalence of NSCL/P have been reported in Ecuador. We postulated that mothers of infants with NSCL/P may have lower serum zinc levels than women from the general population. METHODS: A case series study was conducted from November 2013 to July 2016...
January 8, 2018: Birth Defects Research
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
#10
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
#11
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/29309349/clinical-findings-of-a-cantilever-iliac-bone-graft-for-secondary-correction-of-cleft-lip-nose-deformities
#12
Madoka Sugiyama, Takashi Nakatsuka, Hideto Saijo, Yuko Fujihara, Yuki Kanno, Atsuhiko Hikita, Tsuyoshi Takato, Kazuto Hoshi
The authors performed a cantilever iliac bone graft for the secondary correction of severe cleft lip-nose deformities after the completion of growth. For the purpose of clarifying effects of the cantilever iliac bone grafts and the adverse events with regard to their time course changes after this procedure, the authors retrospectively surveyed long-term morphologic changes in 65 cleft lip, alveolus, and palate patients in whom cleft lip-nose deformities were treated with a cantilever iliac bone graft (age at surgery: 14-45 years old)...
January 5, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29303120/management-of-cleft-lip-and-palate-in-nigeria-a-survey
#13
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/29298444/human-malformation-syndromes-of-defective-gli-opposite-phenotypes-of-2q14-2-gli2-and-7p14-2-gli3-microdeletions-and-a-glia-r-balance-model
#14
Yo Niida, Mika Inoue, Mamoru Ozaki, Etsuko Takase
GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling pathway. GLI regulates gene expression and repression at various phases of embryonic morphogenesis. In humans, 4 GLI genes are known, and GLI2 (2q14.2) and GLI3 (7p14.1) mutations cause different syndromes. Here, we present 2 distinctive cases with a chromosomal microdeletion in one of these genes. Patient 1 is a 14-year-old girl with Culler-Jones syndrome. She manifested short stature, cleft palate, and mild intellectual/social disability caused by a 6...
January 4, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29288792/distal-deletion-at-22q11-2-as-differential-diagnosis-in-craniofacial-microsomia-case-report-and-literature-review
#15
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/29287878/closure-of-fistula-of-the-hard-palate-with-two-layers-of-mucoperiosteum
#16
Mosaad Abdel-Aziz, Ahmed Kamel, Mohamed Fawaz, Ibrahim Rezk, Mohamed Kamel
OBJECTIVE: Oronasal fistula represents a functional problem, as it may result in nasal regurgitation of food and fluids and it also leads to hypernasal speech. Many methods have been proposed for its closure with a high recurrence rate. The aim of this study was to assess the efficacy of closure of hard palate fistula by two layers of mucoperiosteal flaps. METHODS: Eighteen patients with fistula of the hard palate were included. The fistula was repaired by two layers of mucoperiosteal flaps; the first layer was created from the mucoperiosteum surrounding the fistula as bilateral hinge flaps and the second layer was formed of a rotational flap based on the greater palatine artery...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29287853/musculo-mucous-web-velum-and-velopharyngeal-dysfunction-associated-with-8q22-1-22-2-microduplication
#17
Mathieu Trudel, Rachel Laframboise, Jacques E Leclerc
This report presents a rare case of isolated non-cleft velopharyngeal dysfunction (VPD). An eight-year-old child presented 1. a phenotypically unique band-gap pattern of the velar musculature with anteroposterior insertion; 2. a mosaic partial trisomy on chromosome 19 as well as microduplications on chromosomes 8 and 22. Following cytogenetic analysis, microduplication on chromosome 8 was found in another member of her family. A family history of VPI with hypernasality and nasal regurgitation was reported over three different generations on the patient's maternal side...
January 2018: International Journal of Pediatric Otorhinolaryngology
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
#18
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/29283950/evaluating-resident-perspectives-on-international-humanitarian-missions
#19
Matthew D Chetta, Afaaf Shakir, Laurence S Paek, Gordon K Lee
BACKGROUND: Opportunities for international missions are highly sought after by medical students, residents, and attending plastic surgeons. The educational benefits and ethical considerations of trainees participating in these ventures have been extensively debated. At the time of this writing, many surgical training programs lack the necessary infrastructure or funds to support missions of this sort. Despite the increasing interest, the perceived benefit of international work has not yet been well studied...
December 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29283947/a-study-on-environmental-factors-for-nonsyndromic-cleft-lip-and-or-palate
#20
Da-Peng Xu, Wei-Dong Qu, Chao Sun, Rong-Yu Cao, Dian-Wei Liu, Ping-Gong Du
The aim of the study was to investigate the association between environmental factors and nonsyndromic cleft of the lip and/or palate (NSCL/P) in Yantai District, China. A retrospective case-control study was carried out. A total of 236 NSCL/P children were selected from Department of Oral and Maxillofacial Surgery of Yantai Stomatological Hospital between September 2013 and December 2016 as cases; 209 controls were chosen from other diagnosis in the same department during the same period. The 2 groups matched age and sex...
December 27, 2017: Journal of Craniofacial Surgery
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