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https://www.readbyqxmd.com/read/28106695/velopharyngeal-insufficiency-after-le-fort-i-osteotomy-in-a-patient-with-undiagnosed-occult-submucous-cleft-palate
#1
Rushil R Dang, Bonnie L Padwa, Cory M Resnick
The authors present a 16-year-old patient with no known history of cleft palate who developed velopharyngeal insufficiency after a Le Fort I osteotomy performed for the correction of maxillary hypoplasia and a Class III malocclusion. Postoperative evaluation revealed the presence of velopharyngeal insufficiency and subtle findings of an occult submucous cleft palate. She had a pharyngeal flap 6 months later with successful correction of the velopharyngeal insufficiency. This case illustrates the need to screen for submucous cleft palate prior to orthognathic surgery...
January 18, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28106628/neonatal-micrognathia-national-trends-in-early-mandibular-surgery
#2
Hillary E Jenny, Benjamin B Massenburg, E Hope Weissler, Peter J Taub
BACKGROUND: Micrognathia is a congenital anomaly that may pose breathing and feeding limitations in newborns, sometimes necessitating invasive management. The present study aims to identify the complications associated with receiving mandibular surgery during the birth stay in order to better predict which patients may benefit from early surgical intervention. METHODS: A retrospective cohort study was performed using the 2000 to 2012 kids' inpatient databases. We included all live newborn infants born in the hospital through vaginal delivery or caesarean section...
January 19, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28106045/identification-of-shared-and-unique-gene-families-associated-with-oral-clefts
#3
Noriko Funato, Masataka Nakamura
Oral clefts, the most frequent congenital birth defects in humans, are multifactorial disorders caused by genetic and environmental factors. Epidemiological studies point to different etiologies underlying the oral cleft phenotypes, cleft lip (CL), CL and/or palate (CL/P) and cleft palate (CP). More than 350 genes have syndromic and/or nonsyndromic oral cleft associations in humans. Although genes related to genetic disorders associated with oral cleft phenotypes are known, a gap between detecting these associations and interpretation of their biological importance has remained...
January 20, 2017: International Journal of Oral Science
https://www.readbyqxmd.com/read/28102598/novel-findings-of-left-ventricular-non-compaction-cardiomyopathy-microform-cleft-lip-and-poor-vision-in-patient-with-smc1a-associated-cornelia-de-lange-syndrome
#4
Tara L Wenger, Penny Chow, Stephanie C Randle, Anna Rosen, Craig Birgfeld, Joanna Wrede, Patrick Javid, Darcy King, Vivian Manh, Anne V Hing, Erin Albers
Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102012/visual-perception-of-faces-with-unilateral-and-bilateral-cleft-lip-and-palate-an-eye-tracking-study
#5
Furkan Dindaroğlu, Servet Doğan, Sonia Amado, Ege Doğan
OBJECTIVES: To test the hypotheses that there are differences between orthodontists, individuals with cleft lip and palate (CLP) and laypersons in the visual perception of faces with unilateral (UCLP) and bilateral cleft lip and palate (BCLP), the faces with UCLP and BCLP are visually perceived differently and the hierarchy of visual attention changes when viewing individuals with CLP. SETTING AND SAMPLE POPULATION: Department of Orthodontics and Experimental Psychology at Ege University, İzmir...
February 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28101680/application-of-tissue-engineered-bone-grafts-for-alveolar-cleft-osteoplasty-in-a-rodent-model
#6
Paula Korn, Maria Hauptstock, Ursula Range, Christiane Kunert-Keil, Winnie Pradel, Günter Lauer, Matthias C Schulz
OBJECTIVES: The clinical standard for alveolar cleft osteoplasty is augmentation with autologous bone being available in limited amounts and might be associated with donor site morbidity. The aim of the present study was the creation of tissue-engineered bone grafts and their in vivo evaluation regarding their potential to promote osteogenesis in an alveolar cleft model. MATERIALS AND METHODS: Artificial bone defects with a diameter of 3.3 mm were created surgically in the palate of 84 adult Lewis rats...
January 18, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28098711/primary-septal-cartilage-graft-for-the-unilateral-cleft-rhinoplasty
#7
Ting-Chen Lu, Chuan-Fong Yao, Susie Lin, Chun-Shin Chang, Philip Kuo-Ting Chen
PROPOSE: Since 2006, we have explored the option of using septal cartilage as an alar rim graft on the cleft side during primary rhinoplasty to improve nasal symmetry. The aim of this study was to compare the nasal shape with or without rim graft. METHODS: A total of 98 patients with unilateral complete cleft lip and palate were included; 39 patients had septal cartilage as the rim graft, 59 patients did not. Measurements of the nostril height, nostril width, 1/4 medial part of nostril height, nostril area, nasal dome height and nostril axis were made on the cleft and non-cleft side...
January 13, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28096450/analysis-of-genome-instability-biomarkers-in-children-with-non-syndromic-orofacial-clefts
#8
Luíza Araújo da Costa Xavier, João Felipe Bezerra, Adriana Augusto de Rezende, Raffael Azevedo de Carvalho Oliveira, Rodrigo Juliani Siqueira Dalmolin, Viviane Souza do Amaral
The non-syndromic cleft lip and/or palate (NSCL/P) is a common birth defect caused by a combination of genetic and environmental factors. The possible role of genome instability on NSCL/P patient needs more investigation, since DNA metabolism is an essential cellular function to keep cells with normal genotypes and gene expression patterns according to tissue specificities, which is critical during embryo development because it requires sensitive regulation of cell proliferation, apoptosis and differentiation...
January 16, 2017: Mutagenesis
https://www.readbyqxmd.com/read/28094564/secondary-cleft-nasolabial-deformities-a-new-classification-system-for-evaluation-and-surgical-revision
#9
Ghassan Abu Sittah, Odette Abou Ghanem, Usama Hamdan, Paul Ramia, Elias Zgheib
INTRODUCTION:   Secondary or residual cleft lip and nasal deformities following primary unilateral or bilateral cleft lip repair are common. Many classification systems have been proposed to describe congenital cleft lip and palate deformities before repair. This article proposes a one-of-a-kind classification system for residual cleft deformities and describes its application to 136 cleft lip revision cases from cleft outreach missions worldwide. METHODS:   Patients' demographics and deformities were classified preoperatively, and a database of the classification was created...
January 17, 2017: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/28094563/dental-arch-relationships-and-reverse-headgear-effects-in-southern-chinese-patients-with-unilateral-cleft-lip-and-palate-a-retrospective-study
#10
Yang Rafidah Hassan, Kwan Lok Tse, Balvinder Singh Khambay, Wing Kit Wong, Min Gu, Yanqi Yang
OBJECTIVE:   To evaluate the severity of the dental arch relationships and the treatment outcomes of reverse headgear (RHG) in southern Chinese patients with unilateral cleft lip and palate (UCLP). DESIGN:   A retrospective study. SETTING:   Faculty of Dentistry, The University of Hong Kong. PATIENTS:   Thirty-eight UCLP patients with complete records. Among them, 14 were later treated with RHG (RHG group) and 24 were under review (non-RHG group) before definitive orthodontic or in conjunction with orthognathic surgery...
January 17, 2017: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/28094562/effects-of-bisphosphonate-administration-on-cleft-bone-graft-in-a-rat-model
#11
Nicole Cheng, Juyoung Park, Jeffrey Olson, Taewoo Kwon, Deborah Lee, Rachel Lim, Sandy Ha, Reuben Kim, Xinli Zhang, Kang Ting, Sotirios Tetradis, Christine Hong
OBJECTIVE:   Bone grafts in patients with cleft lip and palate can undergo a significant amount of resorption. The aim of this study was to investigate the effects of bisphosphonates (BPs) on the success of bone grafts in rats. DESIGN:   Thirty-five female 15-week-old Fischer F344 Inbred rats were divided into the following experimental groups, each receiving bone grafts to repair an intraoral CSD: (1) Graft/saline: systemic administration of saline and (2) systemic administration of zoledronic acid immediately following surgery (graft/BP/T0), (3) 1 week postoperatively (graft/BP/T1), and (4) 3 weeks postoperatively (graft/BP/T2)...
January 17, 2017: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/28092164/comparing-modified-huddart-bodenham-scoring-system-and-goslon-yardstick-to-assess-dental-arch-relationships-in-unilateral-cleft-lip-and-palate-patients
#12
Muhaini Yakob, H Yang Rafidah, M Gu, Y Yang
OBJECTIVE:   To test the reliability of the modified Huddart-Bodenham (MHB) numerical scoring system and its agreement with the GOSLON Yardstick categorization for assessing the dental arch relationships in unilateral cleft lip and palate (UCLP) cases. DESIGN:   A retrospective study. SETTING:   Faculty of Dentistry, The University of Hong Kong. PATIENTS:   Forty-one nonsyndromic UCLP consecutive patients attending the Joint Cleft Lip/Palate Clinic at Faculty of Dentistry in the University of Hong Kong were selected...
January 16, 2017: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/28088314/is-advanced-paternal-age-a-health-risk-for-the-offspring
#13
REVIEW
Anne-Marie Nybo Andersen, Stine Kjaer Urhoj
In this article we review the epidemiologic evidence for adverse health effects in offspring of fathers of advanced age. First the evidence regarding fetal survival is addressed, and afterward we review the evidence regarding morbidity in children with older fathers. The adverse conditions most consistently associated with increased paternal age are stillbirths, musculo-skeletal syndromes, cleft palate, acute lymphoblastic leukemia and retinoblastoma, and neurodevelopmental disorders in the autism spectrum and schizophrenia...
January 11, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28087736/imputation-of-orofacial-clefting-data-identifies-novel-risk-loci-and-sheds-light-on-the-genetic-background-of-cleft-lip-%C3%A2-cleft-palate-and-cleft-palate-only
#14
Kerstin U Ludwig, Anne C Böhmer, John Bowes, Miloš Nikolić, Nina Ishorst, Niki Wyatt, Nigel L Hammond, Lina Gölz, Frederic Thieme, Sandra Barth, Hannah Schuenke, Johanna Klamt, Malte Spielmann, Khalid Aldhorae, Augusto Rojas-Martinez, Markus M Nöthen, Alvaro Rada-Iglesias, Michael J Dixon, Michael Knapp, Elisabeth Mangold
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals within this high-density dataset are enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28086763/the-prevalence-and-factors-associated-with-malnutrition-among-infants-with-cleft-palate-and-or-lip-at-a-hospital-in-uganda-a-cross-sectional-study
#15
Martin Tungotyo, Daniel Atwine, Deborah Nanjebe, Andrew Hodges, Martin Situma
BACKGROUND: To determine the prevalence and factors associated with malnutrition among infants with Cleft palate and/or cleft lip (CP+/-L) at Comprehensive Rehabilitation for Uganda Hospital (CoRSU) in Uganda. METHODS: This was a cross-sectional study done on infants with CP+/-L and their caretakers admitted between November 2013 and October 2014 at CoRSU hospital which was the study setting. A questionnaire was answered by the infants' caretakers. The main outcome measure, malnutrition was defined and classified based on Z-scores obtained using the W...
January 13, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28081210/mutations-in-hyal2-encoding-hyaluronidase-2-cause-a-syndrome-of-orofacial-clefting-and-cor-triatriatum-sinister-in-humans-and-mice
#16
Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza
Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutations in the HYAL2 gene as a cause of syndromic orofacial clefting. HYAL2, encoding hyaluronidase 2, degrades extracellular hyaluronan, a critical component of the developing heart and palatal shelf matrix...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28077415/international-multiphase-mixed-methods-study-protocol-to-develop-a-cross-cultural-patient-reported-outcome-instrument-for-children-and-young-adults-with-cleft-lip-and-or-palate-cleft-q
#17
Karen W Y Wong Riff, Elena Tsangaris, Tim Goodacre, Christopher R Forrest, Andrea L Pusic, Stefan J Cano, Anne F Klassen
INTRODUCTION: Patient-reported outcome (PRO) instruments should be developed according to rigorous guidelines in order to provide clinically meaningful, scientifically sound measurement. Understanding the methodology behind instrument development informs the selection of the most appropriate tool. This mixed methods protocol describes the development of an internationally applicable PRO instrument, the CLEFT-Q, for evaluating outcomes of treatment for cleft lip and/or palate (CL/P). METHODS AND ANALYSIS: The study includes three main phases that occur iteratively and interactively...
January 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#18
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28073287/psychological-growth-and-well-being-in-individuals-born-with-cleft-an-application-of-self-determination-theory
#19
Aidan Searle, Patricia Neville, Andrea Waylen
OBJECTIVE: Many studies of individuals born with cleft lip and/or palate (CLP) address the psychological impact of CLP in terms of stigma and/or 'resilience'. The present study challenges the usefulness of resilience in CLP research with the application of self-determination theory (SDT). It is proposed that SDT can serve to better understand how individuals born with CLP can achieve psychological growth and well-being. DESIGN: Interviews were conducted with 15 individuals born with CLP in the UK...
January 10, 2017: Psychology & Health
https://www.readbyqxmd.com/read/28070244/assessment-of-fetus-during-second-trimester-ultrasonography-using-hdlive-software-what-is-its-real-application-in-the-obstetrics-clinical-practice
#20
Gabriele Tonni, Gianpaolo Grisolia, Eduardo Félix Santana, Edward Araujo Júnior
AIM: To show imaging results from application of four-dimensional (4D) ultrasound lightening technique (HDlive™) in clinical obstetrics practice. METHODS: Normal and abnormal fetuses at second and third trimester of pregnancy undergoing routine scan with 4D HDlive™ (5DUS) in the rendering mode are described. Realistic features of fetal structures were provided by 5DUS in the rendering mode. Normal anatomy as well as pathology like cleft lip, hypoplastic face, micrognathia, low-set ears, corpus callosum, arthrogryposis, aortic arch, left congenital diaphragmatic hernia are highlighted in this study...
December 28, 2016: World Journal of Radiology
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