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craniofacial cleft

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https://www.readbyqxmd.com/read/28432837/identifying-genetic-sources-of-phenotypic-heterogeneity-in-orofacial-clefts-by-targeted-sequencing
#1
Jenna C Carlson, Margaret A Taub, Eleanor Feingold, Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Elizabeth J Leslie
BACKGROUND: Orofacial clefts (OFCs), including nonsyndromic cleft lip with or without cleft palate (NSCL/P), are common birth defects. NSCL/P is highly heterogeneous with multiple phenotypic presentations. Two common subtypes of NSCL/P are cleft lip (CL) and cleft lip with cleft palate (CLP) which have different population prevalence. Similarly, NSCL/P can be divided into bilateral and unilateral clefts, with unilateral being the most common. Individuals with unilateral NSCL/P are more likely to be affected on the left side of the upper lip, but right side affection also occurs...
April 22, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28420997/micrornas-in-palatogenesis-and-cleft-palate
#2
REVIEW
Christian Schoen, Armaz Aschrafi, Michelle Thonissen, Geert Poelmans, Johannes W Von den Hoff, Carine E L Carels
Palatogenesis requires a precise spatiotemporal regulation of gene expression, which is controlled by an intricate network of transcription factors and their corresponding DNA motifs. Even minor perturbations of this network may cause cleft palate, the most common congenital craniofacial defect in humans. MicroRNAs (miRNAs), a class of small regulatory non-coding RNAs, have elicited strong interest as key regulators of embryological development, and as etiological factors in disease. MiRNAs function as post-transcriptional repressors of gene expression and are therefore able to fine-tune gene regulatory networks...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28417904/zebrafish-as-an-alternative-vertebrate-model-for-investigating-developmental-toxicity-the-triadimefon-example
#3
Maria Zoupa, Kyriaki Machera
Triadimefon is a widely used triazole fungicide known to cause severe developmental defects in several model organisms and in humans. The present study evaluated in detail the developmental effects seen in zebrafish embryos exposed to triadimefon, confirmed and expanded upon previous phenotypic findings and compared them to those observed in other traditional animal models. In order to do this, we exposed embryos to 2 and 4 µg/mL triadimefon and evaluated growth until 120 h post-fertilization (hpf) through gross morphology examination...
April 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28393824/single-stage-correction-of-bilateral-tessier-4-cleft
#4
S M Balaji
Tessier facial clefts are among the rarest facial clefts reported in literature and many contradicting issues have always been rising over the management and surgical approaches involved during the craniofacial cleft repair. Among the craniofacial clefts Tessier no. 4 is an extremely rare facial anomaly, and there are very few evidence which clearly describe the surgical approaches and techniques. Often these type of craniofacial clefts yield very poor surgical results, and they require multidisciplinary sequential corrective surgeries...
January 2017: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28383424/polymorphic-variants-in-vax1-and-the-risk-of-nonsyndromic-cleft-lip-with-or-without-cleft-palate-in-a-population-from-northern-china
#5
Dongmei Li, Tingting Liu, Xiangbiao Meng, Qiang Guo, Jinna Shi, Yanru Hao, Xiaohui Jiao, Kewen Lv, Tao Song
BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial birth defects, and the etiology of NSCL/P involves both genetic and environmental factors. Genome-wide association study (GWAS) identified a novel susceptibility locus of ventral anterior homeobox 1 (VAX1) in patients with NSCL/P. However, the association of single nucleotide polymorphisms (SNPs) of VAX1 with NSCL/P is inconclusive due to the differences in the racial and ethnic populations...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28356131/treatment-of-infants-with-syndromic-robin-sequence-with-modified-palatal-plates-a-minimally-invasive-treatment-option
#6
Silvia Müller-Hagedorn, Wolfgang Buchenau, Jörg Arand, Margit Bacher, Christian F Poets
BACKGROUND: Infants with Robin sequence (RS) suffer from upper airway obstruction (UAO) and feeding problems. We developed an oral appliance with a velar extension in combination with functional treatment and appropriate feeding techniques, which was proven effective in isolated RS. As the above problems are particularly challenging in syndromic RS, we set out to evaluate our treatment concept also in these patients. METHODS: We searched our electronic departmental database to identify all children admitted to our department between 01/01/2003 and 31/12/2009 because of syndromic RS...
March 30, 2017: Head & Face Medicine
https://www.readbyqxmd.com/read/28346501/a-tissue-specific-role-for-intraflagellar-transport-genes-during-craniofacial-development
#7
Elizabeth N Schock, Jaime N Struve, Ching-Fang Chang, Trevor J Williams, John Snedeker, Aria C Attia, Rolf W Stottmann, Samantha A Brugmann
Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. Loss of functional primary cilia has a particularly profound effect on the developing craniofacial complex, causing several anomalies including craniosynostosis, micrognathia, midfacial dysplasia, cleft lip/palate and oral/dental defects. Development of the craniofacial complex is an intricate process that requires interactions between several different tissues including neural crest cells, neuroectoderm and surface ectoderm...
2017: PloS One
https://www.readbyqxmd.com/read/28338586/towards-microsurgical-correction-of-cleft-lip-ex-utero-via-restoration-of-craniofacial-developmental-programs
#8
Xue Dong, Wilmina N Landford, James Hart, Maurizio Risolino, Omer Kaymakcalan, Julia Jin, Yoshiko Toyoda, Elisabetta Ferretti, Licia Selleri, Jason A Spector
BACKGROUND: Cleft Lip with or without Palate (CL/P) is present in approximately 1 in 500-700 live births, representing the most common congenital craniofacial anomaly. Previously, we developed a unique murine model with compound Pbx deficiency that exhibits fully penetrant CL/P. To investigate the possibility of tissue repair at an early gestational stage, we designed a minimally invasive surgical approach suitable for intrauterine repair using Wnt9b-soaked collagen microspheres to restore craniofacial developmental programs for cleft correction...
March 3, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28338583/discussion-towards-microsurgical-correction-of-cleft-lip-ex-utero-via-restoration-of-craniofacial-developmental-programs
#9
Ryan C Ransom, H Peter Lorenz, Michael T Longaker
No abstract text is available yet for this article.
March 3, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28326341/cdc42-is-crucial-for-facial-and-palatal-formation-during-craniofacial-development
#10
Mutsuko Oshima-Nakayama, Atsushi Yamada, Tamaki Kurosawa, Ryo Aizawa, Dai Suzuki, Yoshiro Saito, Hidetoshi Kassai, Yuki Sato, Matsuo Yamamoto, Tatsuo Shirota, Atsu Aiba, Koutaro Maki, Ryutaro Kamijo
Craniofacial deformities with multifactorial etiologies, such as cleft palate and facial dysmorphism, represent some of the most frequent congenital birth defects seen in humans. Their pathogeneses are often related to cranial neural crest (CNC) cells. During CNC cell migration, changes in cell shape and formation, as well as maintenance of subcellular structures, such as filopodia and lamellipodia, are dependent on the complex functions of Rho family small GTPases, which are regulators of actin cytoskeletal organization...
December 2016: Bone Reports
https://www.readbyqxmd.com/read/28316913/a-review-of-seasonality-of-cleft-births-the-brazil-experience
#11
Sibele Nascimento de Aquino, Renato Assis Machado, Lívia Máris R Paranaíba, Daniella Reis B Martelli, Daniela Araújo Veloso Popoff, Mário Sérgio O Swerts, Hercílio Martelli-Júnior
AIMS: Evaluate the seasonal influence in nonsyndromic cleft lip and/or palate (NSCL/P) in Brazilian patients. METHODS: A case-control study, with 361 unrelated patients with NSCL/P and 481 healthy individuals, was done on a reference service for craniofacial deformities in Minas Gerais State, Brazil. Information was collected from clinical records considering gender, month of birth, as well as with the seasons. RESULTS: Nonparametric tests did not show a seasonal variation in month of birth and in seasons of year of NSCL/P compared to a control group (p = 0...
January 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28301481/colec10-is-mutated-in-3mc-patients-and-regulates-early-craniofacial-development
#12
Mustafa M Munye, Anna Diaz-Font, Louise Ocaka, Maiken L Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Soren W Hansen, Chiara Bacchelli, Philip L Beales, Victor Hernandez-Hernandez
3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported that lectin complement pathway genes COLEC11 and MASP1/3 are mutated in 3MC syndrome patients. Here we define a new gene, COLEC10, also mutated in 3MC families and present novel mutations in COLEC11 and MASP1/3 genes in a further five families...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28301459/blepharocheilodontic-syndrome-is-a-cdh1-pathway-related-disorder-due-to-mutations-in-cdh1-and-ctnnd1
#13
Jamal Ghoumid, Morgane Stichelbout, Anne-Sophie Jourdain, Frederic Frenois, Sophie Lejeune-Dumoulin, Marie-Pierre Alex-Cordier, Marine Lebrun, Pierre Guerreschi, Veronique Duquennoy-Martinot, Matthieu Vinchon, Joel Ferri, Matthieu Jung, Serge Vicaire, Clemence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier-Hanu
PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown. METHODS: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. RESULTS: We identified five CDH1 heterozygous missense mutations and three CTNND1 heterozygous truncating mutations leading to loss-of-function or haploinsufficiency...
March 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28301364/effect-of-surgeon-volume-and-craniofacial-fellowship-training-on-cleft-palate-complication-rates
#14
Anna R Schoenbrunner, Cecilia L Dalle Ore, Samuel Lance, Joyce McIntyre, Marilyn Jones, Amanda Gosman
BACKGROUND: Both the general and pediatric surgical literature have evidenced an inverse relationship between surgical case volume and complications. This study seeks to ascertain the relationship between case volume and fistula rates in cleft palate patients. We also seek to determine if craniofacial fellowship training impacts fistula rates. METHODS: Charts were reviewed at a multidisciplinary cleft center in San Diego, CA. We performed chart review on 207 nonsyndromic patients with cleft lip and palate who had surgery at our institution from 1988 to 2010...
May 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28299266/three-dimensional-evaluation-of-surgical-techniques-in-neonates-with-orofacial-cleft
#15
Cleide Felício Carvalho Carrara, Eloá Cristina Passucci Ambrosio, Bianca Zeponi Fernandes Mello, Paula Karine Jorge, Simone Soares, Maria Aparecida Andrade Moreira Machado, Thais Marchini Oliveira
BACKGROUND: Individuals with cleft lip and palate have many anatomic and functional alterations compromising esthetics, hearing, speech, occlusion, and development/craniofacial growth. The rehabilitative treatment of these patients is very challenging and starts at birth aiming at the best treatment for all functional demands. This study aimed to evaluate the dimensional alterations of the dental arches of neonates with cleft lip and palate after two different primary surgical techniques...
July 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28299257/cleft-lip-and-palate-parental-experiences-of-stigma-discrimination-and-social-structural-inequalities
#16
Wasiu Lanre Adeyemo, Olutayo James, Azeez Butali
BACKGROUND: Cleft lip and palate (CLP) are the most common craniofacial birth impairment and one of the most common congenital impairments in humans. Anecdotal evidence suggests that stigmatization, discrimination, and sociocultural inequalities are common "phenomenon" experienced by families of children with CLP in Nigeria. This study aimed to explore the stigmatization, discrimination, and sociocultural inequalities experiences of families with children born with CLP. MATERIALS AND METHODS: The study was carried out at the surgical outpatient cleft clinic of the Lagos University Teaching Hospital, Lagos, Nigeria...
July 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28296718/qualitative-methods-in-the-development-of-a-bilingual-and-bicultural-quality-of-life-outcomes-measure-for-pediatric-patients-with-craniofacial-conditions
#17
Viridiana Juarez Tapia, Julia Helene Drizin, Cecilia Dalle Ore, Marcelo Nieto, Yajahira Romero, Sandra Magallon, Rohith Nayak, Alicia Sigler, Vanessa Malcarne, Amanda Gosman
INTRODUCTION: Craniofacial surgeons treat patients with diverse craniofacial conditions (CFCs). Yet, little is known about the health-related quality of life (HRQoL) impact of diverse CFCs. Currently, there are no suitable instruments that measure the HRQoL of patients with diverse CFCs from the perspective of children and parents. The objective of this study was to develop the items and support the content validity of a comprehensive patient and parent-reported outcomes measure. METHODS: An iterative process consisting of a systematic literature review, expert opinion and in-depth interviews with patients and parents of patients with diverse CFCs was used...
May 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28296336/a-comprehensive-study-of-palate-development-in-miniature-pig
#18
Lindong Sun, Jiangyi Wang, Huina Liu, Zhipeng Fan, Songlin Wang, Juan Du
Palate development is an important morphogenetic event in facial development, including the fusion of the lateral and medial nasal portions of the frontonasal process and maxilla. Derailments of any of these events may result in cleft palate, the most frequent congenital craniofacial abnormality. Recent research has shown that the microanatomy of the miniature pig oral maxillofacial region is quite similar to that of humans, and the use of miniature pigs as a large animal model for dental and orofacial research is increasing...
March 15, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28277486/adult-quality-of-life-postcleft-palate-repair-a-comparison-of-two-techniques
#19
Rachel Skladman, Lynn Marty Grames, Gary Skolnick, Dennis C Nguyen, Sybill D Naidoo, Kamlesh B Patel, Jeffrey L Marsh, Albert S Woo
BACKGROUND AND PURPOSE: In 1989, the Cleft Palate-Craniofacial Journal published the first randomized prospective cleft surgery study, comparing the Kriens intravelar veloplasty (IVV) with a non-IVV 2-flap repair. Results in that and follow-up publications yielded no difference between the 2 groups for need for secondary velopharyngeal management. The subjects have now reached adulthood. This study was designed to ask: Is there any difference between the groups in the outcomes that multidisciplinary team care addresses: speech intelligibility, facial growth, breathing while awake and asleep, attainment of education, and long-term socioeconomic status? METHODS: Enrollees from the original published study were invited to participate in a survey...
March 8, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28246561/management-of-the-amniotic-band-syndrome-with-cleft-palate-literature-review-and-report-of-a-case
#20
Carolina Cortez-Ortega, José Arturo Garrocho-Rangel, Joselín Flores-Velázquez, Socorro Ruiz-Rodríguez, Miguel Ángel Noyola-Frías, Miguel Ángel Santos-Díaz, Amaury Pozos-Guillén
Amniotic Band Syndrome (ABS) is a group of congenital malformations that includes the majority of typical constriction rings and limb and digital amputations, together with major craniofacial, thoracic, and abdominal malformations. The syndrome is caused by early rupture of the amniotic sac. Some of the main oral manifestations include micrognathia, hyperdontia, and cleft lip with or without cleft palate, which is present in 14.6% of patients with this syndrome. The purpose of this report was to describe the clinical characteristics and the oral treatment provided to a 6-month-old male patient affected with ABS with cleft lip and palate...
2017: Case Reports in Dentistry
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