keyword
MENU ▼
Read by QxMD icon Read
search

Facial cleft

keyword
https://www.readbyqxmd.com/read/29140903/cleft-related-orthognathic-surgery-based-on-maxillary-vertical-lengthening-of-the-anterior-facial-height
#1
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
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#2
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29125932/pathogenesis-of-cleft-palate-in-robin-sequence-observations-from-prenatal-magnetic-resonance-imaging
#3
Cory M Resnick, Judy A Estroff, Tessa D Kooiman, Carly E Calabrese, Maarten J Koudstaal, Bonnie L Padwa
PURPOSE: The etiology of the palatal cleft in Robin sequence (RS) is unknown. The purpose of this study was to assess the position of the fetal tongue at prenatal magnetic resonance imaging (MRI) and to suggest a potential relation between tongue position and development of the cleft palate seen in most patients with RS. MATERIALS AND METHODS: This is a retrospective case-and-control study including fetuses with prenatal MRIs performed in the authors' center from 2002 to 2017...
October 16, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29112243/richieri-costa-pereira-syndrome-expanding-its-phenotypic-and-genotypic-spectrum
#4
D R Bertola, G Hsia, L Alvizi, A Gardham, E Wakeling, G L Yamamoto, R S Honjo, L A N Oliveira, R C Di Francesco, B A Perez, C A Kim, M R Passos-Bueno
Richieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5' untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only patient with mild clinical findings harbored a 14-repeat expansion in one allele and a point mutation in the other allele...
November 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29108899/kallmann-syndrome-phenotype-and-genotype-of-hypogonadotropic-hypogonadism
#5
M I Stamou, N A Georgopoulos
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes"...
November 3, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29104383/comparison-of-dermatoglyphic-pattern-among-cleft-and-noncleft-children-a-cross-sectional-study
#6
Sandeep S Mayall, Seema Chaudhary, Harsimran Kaur, Naveen Manuja, Telegi Ravishankar, Ashish A Sinha
Background: Oral clefts are among the common congenital birth defects with a broad phenotypic gamut. Since the epidermal ridges of the fingers and palms as well as the facial structures like lip, alveolus, and palate are formed from the same embryonic tissues during the same embryonic period, the genetic and environmental factors responsible for causing cleft lip and palate might also affect dermatoglyphic patterns. Aim: Thus, study was undertaken to compare the dermato-glyphic pattern of children with orofacial clefts and normal children and to determine the correlation of dermatoglyphics with orofacial clefts...
July 2017: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/29092806/an-effective-surgical-approach-for-the-management-of-recurrent-first-branchial-cleft-fistula-with-cysts-a-case-report
#7
Mi Jang, Chunfu Dai
The goal of this case report is to describe an unusual case of recurrent first branchial cleft fistula with cysts and the effective surgical approach of complete removal with preservation of the facial nerve. A 27-year-old woman presented to our clinic after unsuccessful removal twice during the last 20 years. We have achieved satisfactory outcomes by using an approach to identify the facial nerve at the stylomastoid foramen with canal wall up mastoidectomy under a microscope. No sign of facial palsy, hearing loss, or recurrence were noted in postoperative follow-up...
November 2, 2017: Journal of International Advanced Otology
https://www.readbyqxmd.com/read/29089675/horizontal-gaze-palsy-with-progressive-scoliosis-a-case-report
#8
P Shalini, Virna M Shah
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. It occurs due to mutation in ROBO 3 gene/chromosome 11q23-q25. We report a case of a 60-year-old lady who presented with complaints of defective vision in both eyes. On examination, she had scoliosis with restricted abduction and adduction in both eyes with intact elevation and depression...
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29065370/interferon-regulatory-factor-6-variants-affect-nasolabial-morphology-in-east-asian-populations
#9
Daisuke Tomita, Tetsutaro Yamaguchi, Takatoshi Nakawaki, Yu Hikita, Mohamed Adel, Yong-Il Kim, Shugo Haga, Masahiro Takahashi, Akira Kawaguchi, Mutsumi Isa, Soo-Byung Park, Hajime Ishida, Koutaro Maki, Ryosuke Kimura
OBJECTIVE: The interferon regulatory factor 6 gene (IRF6) is one of the most conspicuous genes among a large number of candidate risk genes for non-syndromic cleft lip with or without cleft palate, which is considered to be a multifactorial defect. Variants of IRF6 are also suggested to affect normal craniofacial variations, especially in the area of the nose and the upper lip. In the present study, we used lateral cephalograms to establish the relationship between IRF6 and sagittal nasolabial morphology in healthy East Asian subjects...
October 9, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/29053389/mrpl53-a-new-candidate-gene-for-orofacial-clefting-identified-using-an-eqtl-approach
#10
C Masotti, L A Brito, A C Nica, K U Ludwig, K Nunes, C P Savastano, C Malcher, S G Ferreira, G S Kobayashi, D F Bueno, N Alonso, D Franco, A Rojas-Martinez, S E Dos Santos, P A Galante, D Meyer, T Hünemeier, E Mangold, E T Dermitzakis, M R Passos-Bueno
A valuable approach to understand how individual and population genetic differences can predispose to disease is to assess the impact of genetic variants on cellular functions (e.g., gene expression) of cell and tissue types related to pathological states. To understand the genetic basis of nonsyndromic cleft lip with or without cleft palate (NSCL/P) susceptibility, a complex and highly prevalent congenital malformation, we searched for genetic variants with a regulatory role in a disease-related tissue, the lip muscle (orbicularis oris muscle [OOM]), of affected individuals...
October 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29050094/-relationship-between-work-%C3%A2-type-of-congenital-first-branchial-cleft-anomaly-and-facial-nerve-and-surgical-strategies
#11
B Zhang, L S Chen, S L Huang, L Liang, X X Gong, P N Wu, S Y Zhang, X N Luo, J D Zhan, X L Sheng, Z M Lu
Objective: To investigate the relationship between Work Ⅱ type of congenital first branchial cleft anomaly (CFBCA) and facial nerve and discuss surgical strategies. Methods: Retrospective analysis of 37 patients with CFBCA who were treated from May 2005 to September 2016. Among 37 cases with CFBCA, 12 males and 25 females; 24 in the left and 13 in the right; the age at diagnosis was from 1 to 76 ( years, with a median age of 20, 24 cases with age of 18 years or less and 13 with age more than 18 years; duration of disease ranged from 1 to 10 years (median of 6 years); 4 cases were recurren after fistula resection...
October 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/29045031/the-triangular-rotation-advancement-flap-for-congenital-longitudinal-earlobe-cleft
#12
Niharika Padhy, Devi Prasad Mohapatra, Friji M T, Ravi Kumar Chittoria, S Dinesh Kumar, Sudhanva Hemant Kumar, Elankumar Subbarayan
The Earlobe is an essential part of the facial aesthetics. Almost all cultures of the world use the earlobe for improving their appearances. Deformities or absence of the earlobe is a cause of distress to many individuals. This article is protected by copyright. All rights reserved.
October 16, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/29037922/oral-vitamin-b1-substitution-does-not-decrease-genetically-determined-cleft-rate-in-mice-a-wysn
#13
Konstanze Scheller, Florian Kalmring, Christian Scheller, Johannes Schubert, Joanna Bialek
PURPOSE: Cleft lip and palate (CL/P) are one of the most common human birth defects. Animal experiments and clinical investigations show a clear reduction of teratogenic clefts by a high-dose vitamin B supplementation during early pregnancy, especially in families at risk (reduction of recurrence). The aim of this work was to examine the influence of thiamine (vitamin B1) on CL/P appearance in genetically determined A/WySn mice within different supplementation starting points. MATERIALS AND METHODS: A total of 24 A/WySn female mice were orally supplemented with high doses (80 mg/kg) of thiamine at different times of pregnancy (5 groups, n = 90)...
June 23, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29030926/sternal-malformations-and-anesthetic-management
#14
REVIEW
John H Nichols, Viviane G Nasr
Shamberger and Welch classify sternal malformations into four types: thoracic ectopia cordis, cervical ectopia cordis, thoraco-abdominal ectopia cordis, and cleft sternum. Cleft sternum is the most common subset, with a reported incidence of 1 in 50,000 to 100,000 live births, representing 0.15% of all anterior chest wall malformations. Acostello et al further classify cleft sternum into complete or partial (superior, medium, inferior) with a simple superior partial cleft sternum being by far the most common with an orthotopic heart, intact pericardium, and normal skin coverage...
November 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28969231/femoral-hypoplasia-with-unusual-facies-syndrome
#15
Sreekanth R Shenoy, Dipankar Mondal, Manas Ranjan Upadhyay, Bhupendra Kumar Gupta, Jatadhari Mahar
Femoral facial syndrome is a rare clinical entity characterized by unilateral or bilateral femoral hypoplasia along with various malformations of face. Only few cases have been detected by antenatal ultrasonography so far. We present the case of one-day-old, male child, born to a primi gravida with oligohydramnios and severe growth restriction. The child had unusual facies with posterior cleft palate, non-communicating hydrocephalus and complete absences of left femur, hypoplasia of right femur, bilateral club foot and bilateral undescended testis...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28967531/assessment-of-facial-asymmetry-before-and-after-the-surgical-repair-of-cleft-lip-in-unilateral-cleft-lip-and-palate-cases
#16
D Al-Rudainy, X Ju, F Mehendale, A Ayoub
This study was performed to assess facial asymmetry in patients with unilateral cleft lip and palate (UCLP) before and after primary lip repair. Three-dimensional facial images of 30 UCLP cases (mean age 3.7±0.8months) captured 1-2days before surgery and 4 months after surgery using stereophotogrammetry were analysed. A generic mesh - a mathematical facial mask consisting of thousands of points (vertices) - was conformed on the three-dimensional images. Average preoperative and postoperative conformed facial meshes were obtained and mirrored by reflecting on the lateral plane...
September 26, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28965976/the-presence-of-diminished-white-matter-and-corpus-callosal-thinning-in-a-case-with-a-sox9-mutation
#17
Ayumi Matsumoto, Eri Imagawa, Noriko Miyake, Takahiro Ikeda, Mizuki Kobayashi, Masahide Goto, Naomichi Matsumoto, Takanori Yamagata, Hitoshi Osaka
SOX9 is responsible for campomelic dysplasia (CMPD). Symptoms of CMPD include recurrent apnea, upper respiratory infection, facial features, and shortening of the lower extremities. The variant acampomelic CMPD (ACMPD) lacks long bone curvature. A patient showed macrocephaly (+3.9 standard deviations [SD]) and minor anomalies, such as hypertelorism, palpebronasal fold, small mandible, and a cleft of soft palate without long bone curvature. From three months of age, he required tracheal intubation and artificial respiration under sedation because of tracheomalacia...
September 28, 2017: Brain & Development
https://www.readbyqxmd.com/read/28961312/prenatal-3d-sonography-of-an-isolated-lateral-facial-cleft
#18
Mina Lee, Young-Bok Ko, Jung-Bo Yang, Byung-Hun Kang
Lateral facial cleft is a rare congenital anomaly, but all affected infants require surgery under general anesthesia. Conventional 2-dimensional coronal view of the face, which is typically used for identification of facial clefts, has limitations with regard to detection of this anomaly. We describe a case of prenatal diagnosis of isolated lateral facial cleft made with 3D sonography and highlight the importance of this tool in the diagnosis of this rare facial deformity.
September 29, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28957438/e-cigarette-aerosol-exposure-can-cause-craniofacial-defects-in-xenopus-laevis-embryos-and-mammalian-neural-crest-cells
#19
Allyson E Kennedy, Suraj Kandalam, Rene Olivares-Navarrete, Amanda J G Dickinson
Since electronic cigarette (ECIG) introduction to American markets in 2007, vaping has surged in popularity. Many, including women of reproductive age, also believe that ECIG use is safer than traditional tobacco cigarettes and is not hazardous when pregnant. However, there are few studies investigating the effects of ECIG exposure on the developing embryo and nothing is known about potential effects on craniofacial development. Therefore, we have tested the effects of several aerosolized e-cigarette liquids (e-cigAM) in an in vivo craniofacial model, Xenopus laevis, as well as a mammalian neural crest cell line...
2017: PloS One
https://www.readbyqxmd.com/read/28954202/ciliopathy-protein-tmem107-plays-multiple-roles-in-craniofacial-development
#20
P Cela, M Hampl, N A Shylo, K J Christopher, M Kavkova, M Landova, T Zikmund, S D Weatherbee, J Kaiser, M Buchtova
A broad spectrum of human diseases called ciliopathies is caused by defective primary cilia morphology or signal transduction. The primary cilium is a solitary organelle that responds to mechanical and chemical stimuli from extracellular and intracellular environments. Transmembrane protein 107 (TMEM107) is localized in the primary cilium and is enriched at the transition zone where it acts to regulate protein content of the cilium. Mutations in TMEM107 were previously connected with oral-facial-digital syndrome, Meckel-Gruber syndrome, and Joubert syndrome exhibiting a range of ciliopathic defects...
September 1, 2017: Journal of Dental Research
keyword
keyword
59984
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"