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Facial clefts

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https://www.readbyqxmd.com/read/28749958/the-impact-of-facial-abnormalities-and-their-spatial-position-on-perception-of-cuteness-and-attractiveness-of-infant-faces
#1
Jennifer Lewis, Debi Roberson, Tom Foulsham
Research has demonstrated that how "cute" an infant is perceived to be has consequences for caregiving. Infants with facial abnormalities receive lower ratings of cuteness, but relatively little is known about how different abnormalities and their location affect these aesthetic judgements. The objective of the current study was to compare the impact of different abnormalities on the perception of infant faces, while controlling for infant identity. In two experiments, adult participants gave ratings of cuteness and attractiveness in response to face images that had been edited to introduce common facial abnormalities...
2017: PloS One
https://www.readbyqxmd.com/read/28746286/harvesting-the-buccal-fat-pad-does-not-result-in-aesthetic-deformity-in-cleft-patients-a-retrospective-analysis
#2
Katelyn G Bennett, Todd E Thurston, Christian J Vercler, Steven J Kasten, Steven R Buchman
BACKGROUND: Buccal fat is often used as a pedicled flap in cleft palate repairs to minimize scarring and fortify tenuous closures. Although many surgeons have adopted this technique, others have remained circumspect because of the concern for subsequent facial asymmetry. METHODS: Patients who underwent cleft palate repair using buccal fat pad flaps for closure between 2007 and 2015 were reviewed. Only patients with unilateral buccal fat pad flaps and three-dimensional photography were included...
August 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28746285/a-comparative-analysis-of-recombinant-human-bone-morphogenetic-protein-2-with-a-demineralized-bone-matrix-versus-iliac-crest-bone-graft-for-secondary-alveolar-bone-grafts-in-patients-with-cleft-lip-and-palate-review-of-501-cases
#3
Jeffrey A Hammoudeh, Artur Fahradyan, Daniel J Gould, Fan Liang, Thomas Imahiyerobo, Leo Urbinelli, JoAnna T Nguyen, William Magee, Stephen Yen, Mark M Urata
BACKGROUND: Alveolar cleft reconstruction using iliac crest bone graft is considered standard of care for children with complete cleft lip and palate at the time of mixed dentition. Harvesting bone may result in donor-site morbidity and additional operating time and length of hospitalization. Recombinant human bone morphogenetic protein (rhBMP)-2 with a demineralized bone matrix is an alternative bone source for alveolar cleft reconstruction. The authors investigated the outcomes of rhBMP-2/demineralized bone matrix versus iliac crest bone graft for alveolar cleft reconstruction by reviewing postoperative surgical complications and cleft closure...
August 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28742129/treatment-outcomes-of-pre-surgical-infant-orthopedics-in-patients-with-non-syndromic-cleft-lip-and-or-palate-a-systematic-review-and-meta-analysis-of-randomized-controlled-trials
#4
Hamid Reza Hosseini, Eleftherios G Kaklamanos, Athanasios E Athanasiou
BACKGROUND: Non-syndromic clefts lip and/or palate (CL/P) defects may have manifold significant and detrimental consequences for the affected individuals and their family environment. Although the use of pre-surgical infant orthopedics (PSIO) was introduced as a means to improve management and treatment outcomes, there still remains a controversy. OBJECTIVE: To investigate the effectiveness of PSIO in patients with non-syndromic CL/P and evaluate the quality of the available evidence...
2017: PloS One
https://www.readbyqxmd.com/read/28738009/morphological-evaluation-of-clefts-of-the-lip-palate-or-both-in-dogs
#5
Santiago Peralta, Nadine Fiani, Kimi H Kan-Rohrer, Frank J M Verstraete
OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images...
August 2017: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/28737562/dynamic-cleft-maxillary-orthopedics-and-periosteoplasty-25-patients-25-years
#6
Frederick N Lukash, Lauren B Shikowitz-Behr, Michael Schwartz, Frank Tuminelli
In 1985 this cleft team, dissatisfied with the treatment and results from cleft lip and palate repair, began a longitudinal long-term study using dynamic maxillary orthopedics and periosteoplasty as was originally described by Drs Millard and Latham. All cases were carefully documented through adolescence, including clinical assessments, orthodontic, radiographic, and cephalometric analyses. In 1998, in this journal, we published our data on 35 complete unilateral and 10 complete bilateral cleft patients. At that time facial growth was following normal cephalometric patterns...
July 22, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28736109/electromyographic-analysis-of-superior-orbicularis-oris-muscle-function-in-children-surgically-treated-for-unilateral-complete-cleft-lip-and-palate
#7
Liliana Szyszka-Sommerfeld, Krzysztof Wo┼║niak, Teresa Matthews-Brzozowska, Beata Kawala, Marcin Mikulewicz
PURPOSE: The aim of this study was to assess the electrical activity of the superior orbicularis oris muscle in children surgically treated for unilateral complete cleft lip and palate (UCCLP). MATERIAL AND METHODS: The sample comprised 45 patients 6.38-12.68 years of age with UCCLP and 40 subjects 6.61-11.71 years of age with no clefts. Electromyographical (EMG) recordings were taken with a DAB-Bluetooth Instrument (Zebris Medical GmbH, Germany) in the rest position and during saliva swallowing, lip protrusion and reciprocal compression of the lips, as well as while producing the phonemes /p/, /b/, and /m/ combined with the vowel /a/...
July 5, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28727040/genome-wide-association-studies-and-meta-analysis-reveal-novel-quantitative-trait-loci-and-pleiotropic-loci-for-swine-head-related-traits
#8
H Chen, T Huang, Z Zhang, B Yang, C Jiang, J Wu, Z Zhou, H Zheng, W Xin, M Huang, M Zhang, C Chen, J Ren, H Ai, L Huang
The pig is an important domestic animal that provides a larger amount of meat and serves as a biomedical animal model for human. Head and facial features are closely linked to identity recognition in mammal communication. To uncover the genetic architecture of swine head and facial features, we constructed 5 experimental pig populations and accurately measured 10 traits related to head and facial features, for which genome-wide association studies and meta-analysis were later carried out. As a result, we identified a total of 24 loci harboring 437 SNP on 8 swine chromosomes (SSC) that surpassed suggestively significant levels, of which 17 loci on 6 chromosomes exceeded the 5% genome-wide significance thresholds...
June 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28713737/maxillary-distraction-osteogenesis-in-unilateral-cleft-lip-and-palate-patients-with-rigid-external-distraction-system
#9
Shadi Alkhouri, Peter D Waite, Matthew B Davis, Ejvis Lamani, Chung How Kau
AIM: Distraction osteogenesis (DO) is a treatment option for patients with maxillary hypoplasia secondary to cleft lip and palate (CLP). PURPOSE: The aim of this study is to present a technique for maxillary DO using Le Fort I osteotomy with rigid external distraction (RED) system. SUBJECTS AND METHODS: The patient presented in this paper was an Asian female with CLP aged 13 years and 6 months. She presented with severe midfacial deficiency with a Class III dental malocclusion with a negative overjet and concave facial profile...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28711741/confirmation-that-mutations-in-ddx59-cause-an-autosomal-recessive-form-of-oral-facial-digital-syndrome-further-delineation-of-the-ddx59-phenotype-in-two-new-families
#10
Sara Faily, Rahat Perveen, Jill Urquhart, Kate Chandler, Jill Clayton-Smith
We report three probands from two unrelated consanguineous families of South Asian origin who all carry the same rare novel homozygous variant within the dead box helicase gene DDX59 in association with features of oral-facial-digital syndrome (OFDS). DDX59 variants have been reported previously in an unclassified, autosomal recessive form of OFDS; clinically associated with features including tongue lobulation, cleft palate, frontal bossing, hypertelorism and postaxial polydactyly. All three probands had lobulated tongues with tongue hamartomas, abnormal tongue tip, developmental delay and microcephaly, with just one proband demonstrating polydactlyly...
July 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28697314/grainyhead-like-transcription-factors-in-craniofacial-development
#11
M R Carpinelli, M E de Vries, S M Jane, S Dworkin
Craniofacial development in vertebrates involves the coordinated growth, migration, and fusion of several facial prominences during embryogenesis, processes governed by strict genetic and molecular controls. A failure in any of the precise spatiotemporal sequences of events leading to prominence fusion often leads to anomalous facial, skull, and jaw formation-conditions termed craniofacial defects (CFDs). Affecting approximately 0.1% to 0.3% of live births, CFDs are a highly heterogeneous class of developmental anomalies, which are often underpinned by genetic mutations...
July 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28687524/pierpont-syndrome-associated-with-the-p-tyr446cys-missense-mutation-in-tbl1xr1
#12
Anne Slavotinek, Heather Pua, Ugur Hodoglugil, Jude Abadie, Joseph Shieh, Jessica Van Ziffle, Mark Kvale, Hane Lee, Pui-Yan Kwok, Neil Risch, Marta Sabbadini
We present a 7-year old male with severe delays, hypotonia and dysmorphic features who had striking, deep palmar and plantar creases and pillowing of the soft tissues of the palms and soles. His facial features included a high anterior hairline, small eyes with narrowed palpebral fissures, a bulbous nasal tip with a short columella, and a large mouth with a thin upper vermilion, and small chin. He had a submucous cleft palate, bilateral cryptorchidism and hydronephrosis. Cranial imaging demonstrated an Arnold Chiari malformation that was also present in his maternal uncle by report...
July 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28686747/functional-analysis-of-the-zebrafish-ortholog-of-hmgcs1-reveals-independent-functions-for-cholesterol-and-isoprenoids-in-craniofacial-development
#13
Anita M Quintana, Jose A Hernandez, Cesar G Gonzalez
There are 8 different human syndromes caused by mutations in the cholesterol synthesis pathway. A subset of these disorders such as Smith-Lemli-Opitz disorder, are associated with facial dysmorphia. However, the molecular and cellular mechanisms underlying such facial deficits are not fully understood, primarily because of the diverse functions associated with the cholesterol synthesis pathway. Recent evidence has demonstrated that mutation of the zebrafish ortholog of HMGCR results in orofacial clefts. Here we sought to expand upon these data, by deciphering the cholesterol dependent functions of the cholesterol synthesis pathway from the cholesterol independent functions...
2017: PloS One
https://www.readbyqxmd.com/read/28680871/the-effect-of-happiness-training-based-on-fordyce-model-on-perceived-stress-in-the-mothers-of-children-with-cleft-lip-and-palate
#14
Zeinab Hemati, Samira Abbasi, Somayeh Paki, Davood Kiani
Introduction: A child afflicted with facial deformities such as cleft lip and palate usually affects their parents, because of difficulties in nutrition, speech, aesthetics and social connections, and also imposing a lot of stress on them. The aim of this study was to investigate the effects of a happiness program on the perceived stress in the mothers of children with cleft lip and palate. Methods: This study was a quasi-experimental study in which 64 mothers of children with cleft lip and palate were divided by simple random sampling into intervention and control groups (n=64)...
June 2017: Journal of Caring Sciences
https://www.readbyqxmd.com/read/28672934/first-branchial-cleft-anomalies-in-children-experience-with-30-cases
#15
Wanpeng Li, Liming Zhao, Hongming Xu, Xiaoyan Li
First branchial cleft anomalies (FBCA) are rare in the clinical setting, as they account for 1 to 8% of all branchial abnormalities. The purpose of this study is to explore the relationship between the fistula tract and facial nerve and the surgical method of FBCA. This retrospective study included 30 cases of FBCA in children managed from 2009 to 2016. All patients underwent surgery to remove the tract of the FBCA. We reviewed the clinical data of the patients to obtain their demographics and management. Thirty patients (11 male and 19 female) with anomalies of FBCA were diagnosed...
July 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28661083/centre-level-variation-in-behaviour-and-the-predictors-of-behaviour-in-5-year-old-children-with-non-syndromic-unilateral-cleft-lip-the-cleft-care-uk-study-part-5
#16
A Waylen, O Mahmoud, A K Wills, D Sell, J R Sandy, A R Ness
OBJECTIVES: The aims of this study were to describe child behavioural and psychosocial outcomes associated with appearance and speech in the Cleft Care UK (CCUK) study. We also wanted to explore centre-level variation in child outcomes and investigate individual predictors of such outcomes. SETTING AND SAMPLE POPULATION: Two hundred and sixty-eight five-year-old children with non-syndromic unilateral cleft lip and palate (UCLP) recruited to CCUK. MATERIALS AND METHODS: Parents completed the Strengths and Difficulties questionnaire (SDQ) and reported their own perceptions of the child's self-confidence...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28661082/centre-level-variation-of-treatment-and-outcome-in-5-year-old-children-with-non-syndromic-unilateral-cleft-lip-and-palate-the-cleft-care-uk-study-part-1-methodology-and%C3%A2-results-for-dento-facial-outcomes
#17
A K Wills, O Mahmoud, A Hall, D Sell, J Smallridge, L Southby, S Toms, A Waylen, Y Wren, A R Ness, J R Sandy
OBJECTIVES: Outline methods used to describe centre-level variation in treatment and outcome in children in the Cleft Care UK (CCUK) study. Report centre-level variation in dento-facial outcomes. SETTING AND SAMPLE POPULATION: Two hundred and sixty-eight five-year-old British children with non-syndromic unilateral cleft lip and palate (UCLP). MATERIALS AND METHODS: Between January 2011 and December 2012, data were collected on a comprehensive range of outcomes...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28661081/centre-level-variation-in-treatment-and-outcomes-and-predictors-of-outcomes-in-5-year-old-children-with-non-syndromic-unilateral-cleft-lip-treated-within-a-centralized-service-the-cleft-care-uk-study-part-6-summary-and-implications
#18
A R Ness, A K Wills, O Mahmoud, A Hall, D Sell, J Smallridge, L Southby, D Stokes, S Toms, A Waylen, Y Wren, J R Sandy
OBJECTIVES: To summarize and discuss centre-level variation across a range of treatment and outcome measures and examine individual and ecological determinants of outcome in children in Cleft Care UK (CCUK). SETTING AND SAMPLE POPULATION: Two hundred and sixty-eight 5-year-old British children with non-syndromic unilateral cleft lip and palate (UCLP) recruited to CCUK and treated within a centralized service. MATERIALS AND METHODS: Children had a range of treatment and outcome measures collected at a 5-year audit clinic...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28634783/the-treatment-for-the-first-branchial-cleft-anomalies-in-children
#19
Wei Liu, Min Chen, Jinsheng Hao, Yang Yang, Jie Zhang, Xin Ni
The objective of this study is to make a clinical analysis for first branchial cleft anomalies (FBCAs), especially introduce the relationship between the Type I/II FBCA with the facial nerve and to demonstrate the importance of using intraoperative microscope and facial nerve monitoring. This is a retrospective review of patients with FBCAs treated in Beijing Children's Hospital, from Jan 2013 to Dec 2015. Clinical data of patients, including sex, age, chief complains, history of surgery, incision and drainage, the relationship with the facial nerve, pre and post-operative facial paralysis, recurrent rate and complications were recorded...
June 20, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28626639/a-non-mosaic-porcn-mutation-in-a-male-with-severe-congenital-anomalies-overlapping-focal-dermal-hypoplasia
#20
Simran Madan, Wei Liu, James T Lu, V Reid Sutton, Bryant Toth, Priscilla Joe, John R Waterson, Richard A Gibbs, Ignatia B Van den Veyver, Edward J Lammer, Philippe M Campeau, Brendan H Lee
Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-mosaic males and most of the currently reported male patients show mosaicism due to de novo post-zygotic mutations in the PORCN gene. There is only one previous report of a surviving male with an inherited mutation in the PORCN gene. Here, we report two male siblings with multiple malformations including skeletal, ocular and renal defects overlapping with FDH...
September 2017: Molecular Genetics and Metabolism Reports
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