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https://www.readbyqxmd.com/read/27911070/-isolated-bilateral-macrostomia-case-report-and-literature-review
#1
Y D Pacheco, C Lorca-García, B Berenguer, E De Tomás
INTRODUCTION: The macrostomia is a facial abnormality also called transverse facial cleft or Tessier cleft number 7. Macrostomia is a rare condition with an incidence from 1/80,000 to 1/300,000 live births. The left commisure is more commonly affected. Bilateral macrostomia is extremely rare, with only 10 to 20% of all cases of macrostomia, and 50% of bilateral cases are associated with different syndromes. To date just over 20 cases of isolated bilateral macrostomia have been described in the literature...
January 25, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27896214/a-case-of-severe-mandibular-retrognathism-with-bilateral-condylar-deformities-treated-with-le-fort-i-osteotomy-and-two-advancement-genioplasty-procedures
#2
Masahiro Nakamura, Takeshi Yanagita, Tatsushi Matsumura, Takashi Yamashiro, Seiji Iida, Hiroshi Kamioka
We report a case involving a young female patient with severe mandibular retrognathism accompanied by mandibular condylar deformity that was effectively treated with Le Fort I osteotomy and two genioplasty procedures. At 9 years and 9 months of age, she was diagnosed with Angle Class III malocclusion, a skeletal Class II jaw relationship, an anterior crossbite, congenital absence of some teeth, and a left-sided cleft lip and palate. Although the anterior crossbite and narrow maxillary arch were corrected by interceptive orthodontic treatment, severe mandibular hypogrowth resulted in unexpectedly severe mandibular retrognathism after growth completion...
November 2016: Korean Journal of Orthodontics
https://www.readbyqxmd.com/read/27893558/medial-femoral-condyle-free-flap-for-premaxillary-reconstruction-in-median-facial-dysplasia
#3
Jong Woo Choi, Woo Shik Jeong, Soon Man Kwon, Kyung S Koh
OBJECTIVE: Median facial dysplasia is a distinct development anomaly of the craniofacial region that is characterized by deficient mid facial structures. Medial femoral condyle free flap could be used as a bony flap, and the unique characteristics of this flap provide the surgeons with the periosteal component as well. In this work, the authors present our experience with a patient of median facial dysplasia with unilateral cleft lip, cleft palate, and premaxillary deficiency. METHODS: The patient was diagnosed with median facial dysplasia accompanied by unilateral cleft lip, cleft palate, and premaxillary...
November 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27891327/analysis-of-fetal-palate-to-assist-pre-natal-ultrasound
#4
Anjali Shastry, Yogitha Ravindranath, Roopa Ravindranath
INTRODUCTION: Cleft palate is one of the major facial congenital malformation in newborns. Pre-natal detection of this malformation is limited to detection of clefting of hard palate but isolated soft palate clefting still remains challenge for sonologists. As Indian literature is limited present study was attempted to provide dimensions and position of fetal palate by digitized images. AIM: To study dimensions, position and differences in parameters between second and third trimester fetuses...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27876897/mmps-and-timps-expression-in-facial-tissue-of-children-with-cleft-lip-and-palate
#5
Liene Smane-Filipova, Mara Pilmane, Ilze Akota
BACKGROUND AND AIMS: Morphogenesis of the upper lip and palate is a complex process involving highly regulated interactions between epithelial and mesenchymal cells. Genetic evidence in humans and mice indicates the involvement of matrix metalloproteinases (MMPs) and their endogenous tissue inhibitors (TIMPs) in cleft lip palate (CLP) aetiology. This study investigated whether expression of MMP-2, MMP-8, MMP-9, TIMP-2, and TIMP-4, which are essential for the upper lip and palate fusion, is dysregulated in children with CLP...
November 21, 2016: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/27871707/cone-beam-computed-tomography-synthesized-cephalometric-study-of-operated-unilateral-cleft-lip-and-palate-and-noncleft-children-with-class-iii-skeletal-relationship
#6
Yifan Lin, Zhen Fu, Lian Ma, Weiran Li
INTRODUCTION: Our objective was to compare the craniofacial hard and soft tissue characteristics between children with operated unilateral cleft lip and palate (UCLP) and children with noncleft lip and palate (non-CLP) with a Class III skeletal relationship. METHODS: The study sample consisted of 30 subjects (18 boys, 12 girls; mean age, 10.21 years) affected by UCLP and 30 non-CLP subjects (17 boys, 13 girls; mean age, 10.19 years) as the control group. All subjects were in the mixed dentition with a Class III skeletal relationship...
November 2016: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/27856617/pdgfr%C3%AE-regulates-craniofacial-development-through-homodimers-and-functional-heterodimers-with-pdgfr%C3%AE
#7
Katherine A Fantauzzo, Philippe Soriano
Craniofacial development is a complex morphogenetic process, disruptions in which result in highly prevalent human birth defects. While platelet-derived growth factor (PDGF) receptor α (PDGFRα) has well-documented functions in this process, the role of PDGFRβ in murine craniofacial development is not well established. We demonstrate that PDGFRα and PDGFRβ are coexpressed in the craniofacial mesenchyme of mid-gestation mouse embryos and that ablation of Pdgfrb in the neural crest lineage results in increased nasal septum width, delayed palatal shelf development, and subepidermal blebbing...
November 17, 2016: Genes & Development
https://www.readbyqxmd.com/read/27855394/prenasal-thickness-prefrontal-space-ratio-and-other-facial-profile-markers-in-first-trimester-fetuses-with-aneuploidies-cleft-palate-and-micrognathia
#8
Merel Bakker, Margherita Pace, Els de Jong-Pleij, Erwin Birnie, Karl-Oliver Kagan, Caterina M Bilardo
OBJECTIVE: To investigate the feasibility and reproducibility of the prenasal thickness (PNT)/nasal bone length (NBL) ratio, maxilla-nasion-mandible (MNM) angle, facial profile line, profile line distance, and prefrontal space ratio (PFSR) in the first trimester of pregnancy, develop normal ranges, and evaluate these markers in abnormal fetuses. METHODS: All measurements were performed on stored images by two operators. Feasibility, interoperator agreement, and prediction intervals were calculated for all measurements...
November 18, 2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/27818252/associated-anomalies-in-cases-with-anotia-and-microtia
#9
Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth
Infants with anotia and microtia (AM) often have other non-AM associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in infants with AM were collected in all livebirths, stillbirths and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 146 cases with AM registered during this period, representing a prevalence of 3...
December 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27804201/qualitative-evaluation-of-crystal-vue-rendering-technology-in-the-assessment-of-fetal-lip-and-palate
#10
Authors Andrea Dall'Asta, Gowrishankar Paramasivam, Christoph Lees
Facial clefts of the lip and alveolar ridge are usually evaluated with conventional ultrasound imaging. However, assessment of the extension of the defect into the palate and the detection of isolated clefts of the secondary palate is often not always possible due to poor acoustic windows. Nevertheless, knowledge of the extent of the cleft has significant prognostic implications in terms of pregnancy choices, surgical and functional outcome. Newly developed three-dimensional (3D) technologies offer the opportunity to develop novel imaging techniques for the evaluation of the secondary palate, although these have not been objectively compared...
November 1, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27799912/understanding-mechanisms-of-gli-mediated-transcription-during-craniofacial-development-and-disease-using-the-ciliopathic-mutant-talpid-2
#11
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
https://www.readbyqxmd.com/read/27793865/unilateral-macrostomia-in-the-newborn-a-rare-congenital-anomaly-of-the-oral-commissure
#12
Eva Simonse, Bianca Panis, Jamiu O Busari
Macrostomia is a rare medical condition, defined as an enlargement of the mouth at the oral commissure. The incidence varies between 1 in 60 000 to 1 in 300 000 live births. Macrostomia is a form of a facial cleft. Macrostomia can present as a unilateral or bilateral anomaly with a partial or complete cleft. Associated anomalies of the surrounding bone, muscle and soft tissue can also be present with or without the presence of a syndrome. Macrostomia results in aesthetic disharmony and also in functional problems...
October 28, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27771646/improving-the-diagnosis-of-children-with-22q11-2-deletion-syndrome-a-single-center-experience-from-serbia
#13
Goran Cuturilo, Danijela Drakulic, Ida Jovanovic, Aleksandar Krstic, Milan Djukic, Dejan Skoric, Marija Mijovic, Igor Stefanovic, Milena Milivojevic, Milena Stevanovic
OBJECTIVE: The incidence of the 22q11.2 microdeletion among children who have at least two out of five major clinical criteria for 22q11.2 deletion syndrome. DESIGN: Prospective study. SETTING: University Childrens Hospital in Belgrade, Serbia between 2005 and 2014. PARTICIPANTS: 57 patients with clinical characteristics of 22q11.2 deletion syndrome. METHODS: Standard G-banding cytogenetic analysis was performed in all children, and the 22q11...
September 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27765551/facial-bone-reconstruction-with-prefabricated-vascularized-calvarium-flaps-in-children-and-young-adults-advantages-and-long-term-results
#14
Eva Meia Rüegg, Paul Gniadek, Ali Modarressi, Denise Baratti-Mayer, Brigitte Pittet-Cuénod
INTRODUCTION: Reconstruction of facial bone defects in children is challenging. The use of well-vascularized bone is mandatory to obtain stable lasting results. This study reports our experience of facial bone reconstruction using prefabricated vascularized calvarium flaps. METHODS: Retrospective case series of 50 patients who underwent 52 maxillary, malar, and mandibular reconstructions between 1988 and 2014 using prefabricated vascularized calvarium flaps. Forty-nine patients suffered from noma sequels; one patient had craniofacial cleft Tessier 3-11...
September 10, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27755407/anthropometrically-based-surgical-technique-for-tessier-3-cleft-reconstruction
#15
Aaron L Morgan, Roger Cason, Christian A El Amm
Craniofacial clefts are rare entities, with an incidence reported as 1.43 to 4.85 per 100,000 births. The Tessier number 3 cleft, the most medial of the oblique clefts, can manifest as clefting of the lip between the canine and lateral incisors, colobomas of the nasal ala and lower eyelid, and inferior displacement of the medial canthus-frequently disrupting the lacrimal system with extreme variability in expressivity (Eppley).Literature on cleft lip repair is extensive and has evolved to incorporate anthropometric techniques, based on identifiable landmarks and anthropometric measurements that are compared with contralateral unaffected anatomy or population means and tracked over time to assess impact on growth...
October 14, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27745784/preoperative-evaluation-of-micro-organisms-in-non-operated-cleft-in-soft-palate-impact-on-use-of-antibiotics
#16
G J Roode, K-W Bütow, S Naidoo
To identify the pathogenic micro-organisms that had colonised preoperatively in clefts in the soft palate and oro-nasopharynx, we retrospectively studied the preoperative microbiological profiles of 200 infants who had had primary repair of all types of cleft in the soft palate. Data from a private practice that specialises in the repair of facial clefts were extracted randomly from patients' files. We analysed the results of the culture of preoperative swabs taken from clefts in the soft palate and oro-nasopharynx, and the resistance profile of organisms towards various antibiotics...
October 10, 2016: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/27727413/improvement-of-quality-of-speech-in-patients-with-velo-pharyngeal-insufficiency-corrected-using-a-buccinator-myomucosal-flap
#17
D K Dias, P D Fernando, R D Dissanayake
INTRODUCTION: Oro-facial clefts involving the palate is the commonest structural defect causing velopharyngeal insufficiency (VPI) and poor intelli gibility of speech. Proper repair of the soft palateis a surgical challenge. Posterior-based buccinator myomucosal flap (BMF) is used to lengthen the soft palate of patients who undergo primary palatoplasty at Teaching Hospital, Karapitiya (THK). BMF is a good choice for the repair of medium sized mucosal defects in the oral cavity since it has appropriate thickness, contains mucous membrane with mucous glands and has a rich blood supply...
2016: Ceylon Medical Journal
https://www.readbyqxmd.com/read/27714920/familial-gordon-syndrome-associated-with-a-piezo2-mutation
#18
Franz Alisch, Alexander Weichert, Karim Kalache, Viola Paradiso, Ann Carolin Longardt, Christof Dame, Katrin Hoffmann, Denise Horn
Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant disorder characterized by contractures of upper and lower limbs. It is distinguishable from other forms of distal arthrogryposis by cleft palate and short stature. Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development...
October 7, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27712814/cleft-palate-repair-gingivoperiosteoplasty-and-alveolar-bone-grafting
#19
Ashley M Dao, Steven L Goudy
Repair of the cleft palate intends to establish the division between the oral and nasal cavity, thereby improving feeding, speech, and eustachian tube dysfunction all while minimizing the negative impact on maxillary growth. Before palate repair candidacy, timing and surgical method of repair is dependent on comorbid conditions, particularly cardiac disease, mandibular length, and palate width. Additionally, management of the alveolar cleft and the indications for gingivoperiosteoplasty versus secondary alveolar bone grafting is a controversial topic that weighs the risks and benefits of potentially sparing the patient an additional surgery against iatrogenic restriction of facial growth and malocclusion...
November 2016: Facial Plastic Surgery Clinics of North America
https://www.readbyqxmd.com/read/27711076/cnbp-ameliorates-treacher-collins-syndrome-craniofacial-anomalies-through-a-pathway-that-involves-redox-responsive-genes
#20
Mauro S Porcel de Peralta, Valeria S Mouguelar, María Antonella Sdrigotti, Felipe A A Ishiy, Roberto D Fanganiello, Maria R Passos-Bueno, Gabriela Coux, Nora B Calcaterra
Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 90% of the cases are due to mutations in the TCOF1 gene, which codifies the nucleolar protein Treacle. Here we report a novel TCS-like zebrafish model displaying features that fully recapitulate the spectrum of craniofacial abnormalities observed in patients. As it was reported for a Tcof1(+/-) mouse model, Treacle depletion in zebrafish caused reduced rRNA transcription, stabilization of Tp53 and increased cell death in the cephalic region...
October 6, 2016: Cell Death & Disease
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