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Facial cleft

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https://www.readbyqxmd.com/read/28902248/facial-profile-esthetics-in-operated-children-with-bilateral-cleft-lip-and-palate
#1
Rita de Cássia Moura Carvalho Lauris, Leopoldino Capelozza, Louise Resti Calil, José Roberto Pereira Lauris, Guilherme Janson, Daniela Gamba Garib
Objective: The aim of this study was to evaluate the facial profile esthetics of rehabilitated children with complete bilateral cleft lip and palate (BCLP), comparing the judgment of professionals related and not related to cleft rehabilitation and laypersons. Methods: Thirty children in the mixed dentition (24 male; 6 female) with a mean age of 7.8 years were evaluated using facial profile photographs by 25 examiners: 5 orthodontists and 5 plastic surgeons with experience in cleft care, 5 orthodontists and 5 plastic surgeons without experience in oral cleft rehabilitation and 5 graduated laymen...
July 2017: Dental Press Journal of Orthodontics
https://www.readbyqxmd.com/read/28901389/analysis-of-dermal-fibroblasts-isolated-from-neonatal-and-child-cleft-lip-and-adult-skin-developmental-implications-on-reconstructive-surgery
#2
Veronika Živicová, Lukáš Lacina, Rosana Mateu, Karel Smetana, Radana Kavková, Eliška Drobná Krejčí, Miloš Grim, Alena Kvasilová, Jiří Borský, Hynek Strnad, Miluše Hradilová, Jana Šáchová, Michal Kolář, Barbora Dvořánková
The nonsyndromic cleft is one of the most frequent congenital defects in humans. Clinical data demonstrated improved and almost scarless neonatal healing of reparative surgery. Based on our previous results on crosstalk between neonatal fibroblasts and adult keratinocytes, the present study focused on characterization of fibroblasts prepared from cleft lip tissue samples of neonates and older children, and compared them with samples isolated from normal adult skin (face and breast) and scars. Although subtle variances in expression profiles of children and neonates were observed, the two groups differed significantly from adult cells...
September 7, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28894726/validation-of-a-new-three-dimensional-imaging-system-using-comparative-craniofacial-anthropometry
#3
Farhad B Naini, Sarah Akram, Julia Kepinska, Umberto Garagiola, Fraser McDonald, David Wertheim
BACKGROUND: The aim of this study is to validate a new three-dimensional craniofacial stereophotogrammetry imaging system (3dMDface) through comparison with manual facial surface anthropometry. The null hypothesis was that there is no difference between craniofacial measurements using anthropometry vs. the 3dMDface system. METHODS: Facial images using the new 3dMDface system were taken from six randomly selected subjects, sitting in natural head position, on six separate occasions each 1 week apart, repeated twice at each sitting...
December 2017: Maxillofacial Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28891895/large-scale-study-of-long-term-anteroposterior-stability-in-a-surgery-first-orthognathic-approach-without-presurgical-orthodontic-treatment
#4
Woo Shik Jeong, Jang Yeol Lee, Jong Woo Choi
Presurgical orthodontic treatment has long been known as a prerequisite in the traditional orthognathic approach. However, achieving ideal decompensation is very difficult even in the presurgical orthodontic period. For minimization of this problem, the surgery-first orthognathic concept has been introduced. The authors hypothesized that this treatment modality will be feasible for skeletal class III dentofacial deformity patients. In this study, the authors tried to compare the traditional and surgery-first approaches regarding long-term outcomes in terms of stability, based on large-scale data...
September 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28884971/testing-the-face-shape-hypothesis-in-twins-discordant-for-nonsyndromic-orofacial-clefting
#5
Jasmien Roosenboom, Karlijne Indencleef, Greet Hens, Hilde Peeters, Kaare Christensen, Mary L Marazita, Peter Claes, Elizabeth J Leslie, Seth M Weinberg
Nonsyndromic orofacial clefts (OFCs) are complex traits characterized by multifactorial inheritance and wide phenotypic variability. Numerous studies have shown subtle differences in the faces of unaffected relatives from cleft families compared to controls, the implication being that such outward differences are an incomplete expression reflecting an underlying genetic predisposition. Twins discordant for OFCs provide a unique opportunity to further test this idea, as the unaffected co-twin shares on average 50% (for dizygotic twins) and 100% (for monozygotic twins) of the genetic risk factors as the affected twin...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28856179/gene-expression-profile-data-for-mouse-facial-development
#6
Sonia M Leach, Weiguo Feng, Trevor Williams
This article contains data related to the research articles "Spatial and Temporal Analysis of Gene Expression during Growth and Fusion of the Mouse Facial Prominences" (Feng et al., 2009) [1] and "Systems Biology of facial development: contributions of ectoderm and mesenchyme" (Hooper et al., 2017 In press) [2]. Embryonic mammalian craniofacial development is a complex process involving the growth, morphogenesis, and fusion of distinct facial prominences into a functional whole. Aberrant gene regulation during this process can lead to severe craniofacial birth defects, including orofacial clefting...
August 2017: Data in Brief
https://www.readbyqxmd.com/read/28855714/the-pterygomaxillary-junction-an-imaging-study-for-surgical-information-of-lefort-i-osteotomy
#7
Yen-Po Chin, Maria Belen Leno, Sarayuth Dumrongwongsiri, Kyung Hoon Chung, Hsiu-Hsia Lin, Lun-Jou Lo
Maxillary osteotomy is a common surgical procedure and often involves separation of the pterygomaxillary junction (PMJ), which is a "blinded" procedure with inherent risks. Knowledge of the PMJ structure is essential. It remains unclear whether patients with different facial types have different PMJ structures, or different surgical outcome. This study evaluated the computed tomographic images of 283 consecutive patients who received orthognathic surgery. Patients were classified into Angle class I, II, III and cleft lip/palate groups...
August 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28839409/profile-changes-and-stability-following-distraction-osteogenesis-with-rigid-external-distraction-in-adult-cleft-lip-and-palate-deformities
#8
Jaeson M Painatt, Ravi Veeraraghavan, Ushass Puthalath, Sherry Peter, Latha P Rao, Maria Kuriakose
OBJECTIVES: The objective of this study is to analyze the hard and soft-tissue profile changes as well as the upper airway changes after distraction osteogenesis (DO) using rigid external distraction device in adult cleft lip and palate (CLP) patients. The study also evaluates the stability of the surgical result. MATERIALS AND METHODS: Three lateral cephalometric radiographs were taken: Predistraction (T1), postdistraction (T2), and 1 year after distractor removal (T3)...
April 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/28820843/cephalometric-predictors-of-clinical-severity-in-treacher-collins-syndrome
#9
Elcin Esenlik, Natalie M Plana, Barry H Grayson, Roberto L Flores
BACKGROUND: The aim of this study is to identify cephalometric measurements associated with clinical severity in patients with Treacher Collins Syndrome (TCS). METHODS: A retrospective single-institutional review of patients with TCS was conducted. Pre-operative cephalograms and computed tomography scans (n=30) were evaluated. 50 cephalometric measurements were compared to age-specific normative data using ANOVA. These cephalometric measurements and the patient's Pruzansky classification were correlated to clinical severity using Spearman analysis...
August 8, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#10
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28816718/double-composite-tissue-z-plasty-technique-for-anatomical-restoration-of-severe-nasal-deformity-in-secondary-unilateral-cleft-lip
#11
Jiao Wei, Tanja Herrler, Hua Xu, Qingfeng Li, Chuanchang Dai
BACKGROUND: Patients with secondary unilateral cleft lip are regularly affected by serious nasal deformities especially of the alar and nasal floor. A large number of techniques for correction have been published, but symmetrical restoration of severe nasal deformation is difficult to achieve. We propose an innovative approach for anatomical restoration for this entity of nasal deformities to achieve long-term symmetrical appearance and muscular function. METHODS: A total of 68 patients with severe nasal deformity due to secondary unilateral cleft lip underwent reconstructive surgery using a double composite tissue Z-plasty technique for anatomical restoration of cartilage, muscle, and soft tissue layers...
October 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28806380/formation-of-the-philtral-column-using-a-dermal-graft-in-secondary-unilateral-cleft-lip
#12
Jeenam Kim, Jongok Park, Ki-Il Uhm, Donghyeok Shin, Hyungon Choi
INTRODUCTION: The philtral column has an important aesthetic significance and is especially important in patients with cleft lip. If the integrity of the philtrum cannot be preserved in patients of unilateral clefts, these patients will have profound abnormalities in their facial musculature. The purpose of this study was to analyze the effects of dermal grafting on the philtral column in patients with a unilateral alveolar cleft. METHODS: The authors retrospectively studied dermal grafts performed in Konkuk University Medical Center between January 2009 and January 2015...
August 10, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28796110/surgery-navigation-in-treating-congenital-midfacial-dysplasia-of-patients-with-facial-cleft
#13
Dong Li, Shanshan Bai, Zheyuan Yu, Liang Xu, Jie Yuan, Haisong Xu, Min Wei
AIM: To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. MATERIALS AND METHODS: Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients...
September 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28791817/binder-syndrome-clinical-findings-and-surgical-treatment-of-18-patients-at-the-department-of-plastic-surgery-in-polanica-zdr%C3%A3-j
#14
Piotr H Drozdowski, Ireneusz Łątkowski, Mateusz G Zachara, Piotr Wójcicki
BACKGROUND: Binder syndrome (BS) is an uncommon congenital underdevelopment of the maxilla and nasal skeleton. Other clinical features include a hypoplastic or absent anterior nasal spine; a short, flat nose with short columella; an acute nasolabial angle; a convex upper lip and class III malocclusion. OBJECTIVES: The aim of the study was to outline the major characteristics of BS and to present a variety of surgical treatment methods. MATERIAL AND METHODS: The study included 18 patients treated in the authors' department from 1989 to 2013...
May 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28790548/a-giant-heart-tumor-in-neonate-with-clinical-signs-of-pierre-robin-syndrome
#15
Ramush Bejiqi, Ragip Retkoceri, Hana Xhema-Bejiqi, Rinor Bejiqi, Arlinda Maloku
INTRODUCTION: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. CASE REPORT: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28777491/identification-of-stac3-variants-in-non-native-american-families-with-overlapping-features-of-carey-fineman-ziter-syndrome-and-moebius-syndrome
#16
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, Carlos E Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J T van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs, David Valle, John Carey, Julie E Hoover-Fong, Nara L M Sobreira
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28777481/a-human-case-of-slc35a3-related-skeletal-dysplasia
#17
Andrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, Donna M McDonald-McGinn, Xueli Li, Miao He, Elaine H Zackai
Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the SLC35A3 gene. Here, we report the first case in humans of SLC35A3-related vertebral anomalies. Our patient had prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28771384/vax1-plays-an-indirect-role-in-the-etiology-of-murine-cleft-palate
#18
F Geoghegan, G M Xavier, A A Birjandi, M Seppala, M T Cobourne
Cleft lip with or without palate (CLP) and isolated cleft palate (CP) are common human developmental malformations with a complex etiology that reflects a failure of normal facial development. VAX1 encodes a homeobox-containing transcription factor identified as a candidate gene for CLP in human populations, with targeted deletion in mice associated with multiple anomalies, including disruption of the visual apparatus and basal forebrain, lobar holoprosencephaly, and CP. We have investigated Vax1 function during murine palatogenesis but found no evidence for a direct role in this process...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28767323/candidate-genes-for-nonsyndromic-cleft-palate-detected-by-exome-sequencing
#19
A K Hoebel, D Drichel, M van de Vorst, A C Böhmer, S Sivalingam, N Ishorst, J Klamt, L Gölz, M Alblas, A Maaser, K Keppler, A M Zink, M J Dixon, J Dixon, A Hemprich, T Kruse, I Graf, A Dunsche, G Schmidt, N Daratsianos, S Nowak, K A Aldhorae, M M Nöthen, M Knapp, H Thiele, C Gilissen, H Reutter, A Hoischen, E Mangold, K U Ludwig
Nonsyndromic cleft palate only (nsCPO) is a facial malformation that has a livebirth prevalence of 1 in 2,500. Research suggests that the etiology of nsCPO is multifactorial, with a clear genetic component. To date, genome-wide association studies have identified only 1 conclusive common variant for nsCPO, that is, a missense variant in the gene grainyhead-like-3 ( GRHL3). Thus, the underlying genetic causes of nsCPO remain largely unknown. The present study aimed at identifying rare variants that might contribute to nsCPO risk, via whole-exome sequencing (WES), in multiply affected Central European nsCPO pedigrees...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28762357/a-novel-approach-for-prosthodontic-management-of-patient-with-cleft-of-palate
#20
Shalini Goyal, Sapna Rani, Salil Pawah, Pankaj Sharma
Nutrition is important in every stage of child development. A child born with cleft lip and palate may experience difficulties while feeding due to the lack of seal of the oral cavity due to incomplete facial and palatal structures. Difficulty in feeding leads to inadequate nutrition and affects the health. Children with cleft lip and palate need certain modifications to thrive and grow. Feeding difficulties should be assessed and intervened as early as possible, as they are an important aspect of multidisciplinary team approach in management and may have an impact on long-term outcome...
July 2017: Journal of the Indian Society of Pedodontics and Preventive Dentistry
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