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Craniofacial, Craniosynostosis, Cleft lip and palate

S H Zaky, K W Lee, J Gao, A Jensen, K Verdelis, Y Wang, A J Almarza, C Sfeir
: Mechanical load influences bone structure and mass. Arguing the importance of load-transduction, we investigated the mechanisms inducing bone formation using an elastomeric substrate. We characterized Poly (glycerol sebacate) (PGS) in-vitro for its mechanical properties, compatibility with osteoprogenitor cells regarding adhesion, proliferation, differentiation under compression versus static cultures and in-vivo for the regeneration of a rabbit ulna critical size defect. The load-transducing properties of PGS were compared in-vitro to a stiffer poly lactic-co- glycolic-acid (PLA/PGA) scaffold of similar porosity and interconnectivity...
January 18, 2017: Acta Biomaterialia
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
Ya-Ting Chang, Praneet Chaturvedi, Elizabeth N Schock, Samantha A Brugmann
The primary cilium is a ubiquitous, microtubule-based organelle that cells utilize to transduce molecular signals. Ciliopathies are a group of diseases that are caused by a disruption in the structure or function of the primary cilium. Over 30% of all ciliopathies are primarily defined by their craniofacial phenotypes, which typically include midfacial defects, cleft lip/palate, micrognathia, aglossia, and craniosynostosis. The frequency and severity of craniofacial phenotypes in ciliopathies emphasizes the importance of the cilium during development of the craniofacial complex...
2016: Frontiers in Physiology
Viridiana J Tapia, Sherise Epstein, Oresta S Tolmach, Abdul S Hassan, Natalie N Chung, Amanda A Gosman
BACKGROUND: Treatment for patients with diverse craniofacial conditions is complex and long-term. Craniofacial conditions profoundly influence health-related quality of life, and patient- and parent-reported outcomes provide a critical and complementary perspective on the multidisciplinary treatment of patients. However, little is known regarding the health-related quality of life among children with diverse craniofacial conditions. The purpose of this study was to systematically review the literature regarding patient- and parent-reported outcomes measures for patients with diverse craniofacial conditions...
July 2016: Plastic and Reconstructive Surgery
Hannah Neiswender, Sammy Navarre, David J Kozlowski, Ellen K LeMosy
OBJECTIVE:   Tinagl1 has a weak genetic association with craniosynostosis, but its functions in cartilage and bone development are unknown. Knockdown of Tinagl1 in zebrafish embryos allowed an initial characterization of its potential effects on craniofacial cartilage development and a test of whether these effects could involve Wnt signaling. RESULTS:   Tinagl1 knockdown resulted in dose-dependent reductions and defects in ventral pharyngeal arch cartilages as well as the ethmoid plate, a zebrafish correlate to the palate...
May 31, 2016: Cleft Palate-craniofacial Journal
Chad A Purnell, Alexandra W Benz, Arun K Gosain
INTRODUCTION: Since the initiation of the "Back to Sleep Campaign" by the American Academy of Pediatrics in 1992, the incidence of referrals for positional plagiocephaly has increased by 600%. Although patients with positional plagiocephaly rarely require operative intervention, they often do require treatment with cranial molding helmets or positioning changes. The increased volume of patients makes the task of separating cases of craniosynostosis from positional head shape problems more difficult...
September 2015: Journal of Craniofacial Surgery
Stephen R F Twigg, Andrew O M Wilkie
Development of the human skull and face is a highly orchestrated and complex three-dimensional morphogenetic process, involving hundreds of genes controlling the coordinated patterning, proliferation and differentiation of tissues having multiple embryological origins. Craniofacial malformations that occur because of abnormal development (including cleft lip and/or palate, craniosynostosis and facial dysostoses), comprise over one-third of all congenital birth defects. High-throughput sequencing has recently led to the identification of many new causative disease genes and functional studies have clarified their mechanisms of action...
October 15, 2015: Human Molecular Genetics
A Akram, M M McKnight, H Bellardie, V Beale, R D Evans
This review article presents an overview of craniofacial malformations and the role of the orthodontist in their management. The first part of this article focuses on cleft lip and palate, followed by more complex deformities including craniosynostosis and craniofacial microsomia. The main features of these anomalies are discussed as well as the clinical problems seen in this group of patients. The emphasis is on the role of the orthodontist in the multi-disciplinary management of these cases.
February 16, 2015: British Dental Journal
Jiewen Dai, Zhifang Mou, Shunyao Shen, Yuefu Dong, Tong Yang, Steve Guofang Shen
Msx1 and Msx2 were revealed to be candidate genes for some craniofacial deformities, such as cleft lip with/without cleft palate (CL/P) and craniosynostosis. Many other genes were demonstrated to have a cross-talk with MSX genes in causing these defects. However, there is no systematic evaluation for these MSX gene-related factors. In this study, we performed systematic bioinformatic analysis for MSX genes by combining using GeneDecks, DAVID, and STRING database, and the results showed that there were numerous genes related to MSX genes, such as Irf6, TP63, Dlx2, Dlx5, Pax3, Pax9, Bmp4, Tgf-beta2, and Tgf-beta3 that have been demonstrated to be involved in CL/P, and Fgfr2, Fgfr1, Fgfr3, and Twist1 that were involved in craniosynostosis...
January 2014: Journal of Craniofacial Surgery
Ditte Mølgaard-Nielsen, Björn Pasternak, Anders Hviid
BACKGROUND: Case reports suggest that long-term, high-dose fluconazole treatment for severe fungal infections during pregnancy causes a pattern of birth defects. It is unclear whether commonly used lower doses increase the risk of specific birth defects. METHODS: In a registry-based cohort of liveborn infants in Denmark, we evaluated first-trimester oral fluconazole exposure and the risk of birth defects overall and of birth defects previously linked to azole antifungal agents...
August 29, 2013: New England Journal of Medicine
Karen W Y Wong, Christopher R Forrest, Tim E E Goodacre, Anne F Klassen
This article discusses the measurement of outcomes in craniofacial and pediatric plastic surgery, using examples of craniosynostosis and cleft lip and/or palate (CLP). The challenges in measuring the standard outcomes of function, aesthetics, and health-related quality of life are discussed, along with the importance of developing evidence and studying quality improvement in this specialty. The need to define specific and comprehensive goals is discussed with a focus on patient-reported outcomes (PROs). Examples from the development of the CLEFT-Q, a PRO instrument for patients with CLP, are provided to support the need to seek the patient perspective...
April 2013: Clinics in Plastic Surgery
Philip Stanier, Erwin Pauws
The fibroblast growth factor (FGF) signalling pathway is critically involved in several aspects of craniofacial development, including formation of the lip and the palate. FGF receptors are activated by extracellular FGF ligands in order to regulate cellular processes such as migration and morphogenesis through instruction of specific target gene expression. A key factor in the development of orofacial structures is the interaction between mesodermal- and neural crest-derived mesenchyme and ecto- and endodermal-derived epithelium...
2012: Frontiers of Oral Biology
Aljohar Aziza, Ravichandran Kandasamy, Subhani Shazia
BACKGROUND AND OBJECTIVE: To date, there are no published studies from Saudi Arabia on the incidence or etiology of craniofacial anomalies. This study aimed to report the patterns of craniofacial anomalies in Saudi Arabia. DESIGN AND SETTING: Hospital-based, descriptive study conducted during 2002 to 2009 in the Cleft Lip/Palate and Craniofacial Anomalies Registry at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. PATIENTS AND METHODS: Data was collected on craniofacial patients in the registry...
September 2011: Annals of Saudi Medicine
Caroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, Elyes Chabchoub, Victor Hernandez-Hernandez, Hanan Shamseldin, Joanna Kenny, Aoife Waters, Dagan Jenkins, Ali Al Kaissi, Gabriela F Leal, Bruno Dallapiccola, Franco Carnevale, Maria Bitner-Glindzicz, Melissa Lees, Raoul Hennekam, Philip Stanier, Alan J Burns, Hilde Peeters, Fowzan S Alkuraya, Philip L Beales
3MC syndrome has been proposed as a unifying term encompassing the overlapping Carnevale, Mingarelli, Malpuech and Michels syndromes. These rare autosomal recessive disorders exhibit a spectrum of developmental features, including characteristic facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. Here we studied 11 families with 3MC syndrome and identified two mutated genes, COLEC11 and MASP1, both of which encode proteins in the lectin complement pathway (collectin kidney 1 (CL-K1) and MASP-1 and MASP-3, respectively)...
March 2011: Nature Genetics
Gökhan Tunçbilek, Yasemin Alanay, Hakan Uzun, Aycan Kayikçioğlu, Nurten A Akarsu, Kemal Benli
BACKGROUND: Craniofacial structures have an intimate relationship with the central nervous system in the embryologic development period and the developmental abnormalities of the face and skull that are frequently associated with malformations of the central nervous system. Additional intracranial and extracranial malformations in a patient with craniofacial deformity may negatively affect the outcome of the surgery and the quality of life. PATIENTS AND METHODS: A retrospective analysis of a total of 123 patients with craniofacial anomalies was performed...
September 2010: Journal of Craniofacial Surgery
Bernard J Costello, Sean P Edwards
Many advances in health care are built on the evolution of technology. An entirely new patient has emerged in fetal medicine, with these advances in prenatal imaging allowing one to see and diagnose disease not previously appreciated. Clinicians can better plan for the delivery of the neonate, with identified anomalies being optimally managed and the impact on the neonate's health minimized. The oral and maxillofacial surgeon offers expertise in the management of craniomaxillofacial anomalies, including congenital tumors, facial clefts, craniosynostosis, micrognathia, and other congenital abnormalities...
February 2010: Oral and Maxillofacial Surgery Clinics of North America
Heather Snyder, Alice W Pope
OBJECTIVE: To obtain descriptive information about diagnosis-specific patterns of psychosocial adjustment for children and adolescents with craniofacial anomalies. DESIGN: Chart review of medical records was used to obtain psychosocial checklists. Scores were compared with published norms to evaluate elevated risk of problems, separately for six diagnostic groups. SETTING: Plastic surgery department in urban university medical center. PARTICIPANTS: As part of routine ongoing care, 408 caregivers completed checklists assessing psychosocial adjustment of children aged 2 to 18 years with diagnosis of cleft lip and palate, cleft lip only, cleft palate only, craniosynostosis, hemifacial microsomia, and hemangioma...
May 2010: Cleft Palate-craniofacial Journal
Bernard J Costello, Sean P Edwards, Michele Clemens
So many advances in health care are built on the evolution of technology. In the case of fetal medicine, technology has availed an entirely new patient. Advances in prenatal imaging allow us to see and diagnose disease not previously appreciated. Armed with this information, clinicians can better plan for the delivery of the neonate such that any identified anomalies are optimally managed, and the impact on the neonate's health minimized. The oral and maxillofacial surgeon can be a key member in this team by offering expertise in the management of craniomaxillofacial anomalies including congenital tumors, facial clefts, craniosynostosis, micrognathia, and other congenital abnormalities...
October 2008: Journal of Oral and Maxillofacial Surgery
E B Wolvius, L N A van Adrichem, E M Ongkosuwito, K G H van der Wal
A cleft lip and palate is the most common congenital anomaly in the craniofacial region. There are many other congenital craniofacial anomalies. These anomalies may be part of a syndrome with a wide variety of expression. Some of these syndromes are characterized by hypoplasia of the mandible or by hypoplasia of the maxilla and the orbits, often in combination with premature closure of the skull sutures. In addition, posttraumatic and tumour resection defects are also classified as craniofacial anomalies. The care for patients with craniofacial anomalies is highly complex and, therefore, organised in multidisciplinary craniofacial teams...
June 2008: Nederlands Tijdschrift Voor Tandheelkunde
P Carinci, E Becchetti, T Baroni, F Carinci, F Pezzetti, G Stabellini, P Locci, L Scapoli, M Tognon, S Volinia, M Bodo
The normal development of cranial primordia and orofacial structures involves fundamental processes in which growth, morphogenesis, and cell differentiation take place and interactions between extracellular matrix (ECM) components, growth factors and embryonic tissues are involved. Biochemical and molecular aspects of craniofacial development, such as the biological regulation of normal or premature cranial suture fusion, has just begun to be understood, thanks mainly to studies performed in the last decade...
2007: European Journal of Histochemistry: EJH
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