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cleft palate and lip

Bi-He Zhang, Ning Huang, Jia-Yu Shi, Bing Shi, Zhong-Lin Jia
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a complex disorder, it results from both of the genetic modifiers and environmental factors, with genetic modifiers contributed to it more than environmental factors. GWASs studies made great progress in identifying the candidate genes for NSCL/P, but the findings needs to be replicated in other populations. In this study, we selected eleven SNPs from recent GWASs and GWAS meta-analysis to investigate their associations among 308 NSCL/P trios (134 non-syndromic cleft lip only (NSCLO) trios and 174 non-syndromic cleft lip with cleft palate (NSCLP) trios) from Han Chinese population...
April 23, 2018: Journal of Oral Pathology & Medicine
Christen J Boyer, Jennifer E Woerner, Christopher Galea, Corbin A Gatlin, Ghali E Ghali, David K Mills, Jeffery A Weisman, Jonathan S Alexander
PURPOSE: After cleft lip and palate surgical procedures, patients often need nostril supports to help the reconstructed nostrils retain their shape during healing. Many postoperative nasal stents use a one-size-fits-all approach, in which a standard rubber tube retainer is trimmed and used to support the healing nares. The purpose of this study was to examine photogrammetry and 3-dimensional (3D) printing as a fabrication tool for postoperative patient-specific nasal supports that can be loaded with bioactive agents for localized delivery...
March 28, 2018: Journal of Oral and Maxillofacial Surgery
Thanapoom Boonipat, Nicholas S Adams, Allen L Shoemaker, Robert J Mann, John W Polley, John A Girotto
OBJECTIVE: It is well known that patients with oral clefts have challenges with feeding. Enteral feeding access, in the form of gastrostomy, is often utilized to supplement or replace oral intake. Although commonly performed, these procedures have reported complication rates as high as 83%. We intend to discover rates of enteral access in patients with oral clefts and report-related outcomes. DESIGN: The Healthcare Cost Utilization Project Kids' Inpatient Database from 2000 to 2012 was analyzed using patients with oral clefts and enteral access procedures...
January 1, 2018: Cleft Palate-craniofacial Journal
Sydney C Butts, Simone Reynolds, Lyuba Gitman, Prayag Patel, Michael Joseph
OBJECTIVE: To determine the role of racial background, public health initiatives, and residence on the prevalence of orofacial clefts (OFCs) in New York City (NYC). DESIGN/METHODS: Retrospective review of OFC cases from the New York State Congenital Malformations Registry. PATIENTS/PARTICIPANTS: Patients born with an OFC and all live births to mothers residing in NYC between 1983 and 2010. MAIN OUTCOME MEASURES: Orofacial cleft birth prevalence by cleft type, race, and borough of maternal residence for each year and by time period around the implementation of public health interventions including folate supplementation...
January 1, 2018: Cleft Palate-craniofacial Journal
Min Gu, Yan Zhang, Hualian Liu, Jue Liu, Danxia Zhu, Xu Yang
MSH homebox 1 (MSX1) is a susceptibility gene for non-syndromic orofacial clefts (NSOCs). Here, a meta-analysis was conducted to assess their associations. A systematic search of PubMed to 1 September 2017, was performed to retrieve all eligible studies. Odds ratios (ORs) were used to calculate the associations. The stability of the results was evaluated by sensitivity analysis. Publication bias was assessed using Begg's funnel plots and the Egger test. In silico Msx1 expression during early mouse craniofacial development was evaluated by the Gene Expression Omnibus...
April 17, 2018: European Journal of Oral Sciences
Anne F Klassen, Karen Wy Wong Riff, Natasha M Longmire, Asteria Albert, Gregory C Allen, Mustafa Asim Aydin, Stephen B Baker, Stefan J Cano, Andrew J Chan, Douglas J Courtemanche, Marieke M Dreise, Jesse A Goldstein, Timothy E E Goodacre, Karen E Harman, Montserrat Munill, Aisling O Mahony, Mirta Palomares Aguilera, Petra Peterson, Andrea L Pusic, Rona Slator, Mia Stiernman, Elena Tsangaris, Sunil S Tholpady, Federico Vargas, Christopher R Forrest
BACKGROUND: Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking. METHODS: Data were collected from patients aged 8-29 years with cleft lip and/or palate at 30 hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity...
April 16, 2018: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
Phumzile Hlongwa, Laetitia C Rispel
BACKGROUND: Clefting of the lip and/or palate (CL/P) is amongst the five most common birth defects reported in South Africa. The emotional impact on parents at the birth of their new-born with CL/P could affect parent-child relationships. In light of insufficient scholarly attention parental experiences and perceptions, this study reports on caregivers' perceptions of health service provision and support for children born with cleft lip and palate in South Africa. METHODS: The study setting consisted of 11 academic hospital centres situated in six of South Africa's nine provinces...
April 16, 2018: BMC Public Health
E Xu, J-G Delpey, E Finel, A Pennanéach
We report the case of an infant boy born at 39 weeks and 5 days who presented a cleft lip and palate. During the assessment to detect associated malformations, cardiac auscultation revealed a systolic heart murmur. Echocardiography and subsequent thoracic computed tomography angiography identified an aneurysm of the ductus arteriosus. Ductus arteriosus aneurysm, a complicated form of patent ductus arteriosus, may not be as rare as once considered. A clear majority of ductus arteriosus aneurysms are asymptomatic and physiologically resolve after birth...
April 12, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Wei Long, Jiandong Gu, Jun Ouyang, Saiyu Jia, Bin Zhang, Jianbin Liu, Bin Yu
OBJECTIVE: To determine the nature of genomic copy number variations (CNVs) in two fetuses with congenital heart defects (CHD) and explore the correlation between 3q microdeletions and CHD. METHODS: Genomic DNA was extracted from fetal umbilical cord tissue, and chromosome copy number variations were detected by low coverage whole genome sequencing. RESULTS: Both fetuses had microdeletions of the long arm of chromosome 3. Fetus 1 had ventricular septal defect, cleft lip and palate, and a 1...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Rajgopal R Reddy, Srinivas Gosla Reddy, Anusha Chilakalapudi, Swapnika Kokali, Ewald M Bronkhorst, Ann W Kummer, Stefaan J Bergé, Anne Marie Kuijpers-Jagtman
BACKGROUND: Is one or two-stage palatoplasty more effective preventing fistula formation and hypernasality in patients with complete unilateral cleft lip and palate? METHODS: This parallel blocked randomized controlled trial included 100 patients with non-syndromic complete unilateral cleft lip and palate with a repaired cleft lip, divided into 2 groups of 50 each. Group A had one-stage palatoplasty at age 12-13 months while group B had two-stage palatoplasty with soft palatoplasty at age 12-13 months and hard palatoplasty at age 24-25 months...
March 28, 2018: Plastic and Reconstructive Surgery
Norman Hay, Brijesh Patel, Priya Haria, Brian Sommerlad
OBJECTIVE: To assess the midterm effect on maxillary growth of vomerine flap (VF) closure of the hard palate, at the time of lip repair. DESIGN: A retrospective analysis of prospectively collected nonrandomized data. INTERVENTIONS: Consecutive participants with a unilateral cleft lip and palate (UCLP) were operated on, at 3 months of age, by the same surgeon. They were divided into 2 groups, those who had a VF and those who did not (non-VF)...
January 1, 2018: Cleft Palate-craniofacial Journal
Susanna Botticelli, Thomas Klit Pedersen, Annelise Küseler, Sven Erik Nørholt, Paolo M Cattaneo
OBJECTIVE: To present a 3-D standardized analysis of cleft dimensions. MATERIALS: Thirty-one plaster casts of unilateral cleft lip and palate (UCLP) infants were laser scanned. Landmarks and coordinate system were defined. Linear distances and surfaces were measured, and the ratio between cleft and palatal area was calculated (3-D infant cleft severity ratio [3D ICSR]). The digitally measured areas were compared with silicone membranes, adapted to the plaster casts, and analyzed by optic microscopy...
January 1, 2018: Cleft Palate-craniofacial Journal
Christl Vermeij-Keers, Anna M Rozendaal, Antonius J M Luijsterburg, Benny S Latief, Costas Lekkas, Lea Kragt, Edwin M Ongkosuwito
OBJECTIVE: Previously, a new embryological classification was introduced subdividing oral clefts into fusion and/or differentiation defects. This subdivision was used to classify all subphenotypes of cleft lip with or without alveolus (CL±A). Subsequently, it was investigated whether further morphological grading of incomplete CLs is clinically relevant, and which alveolar part is deficient in fusion/differentiation defects. DESIGN: Observational cohort study. SETTING: Three hundred fifty adult unoperated Indonesian cleft patients presented themselves for operation...
January 1, 2018: Cleft Palate-craniofacial Journal
Nicola Marie Stock, Matthew Ridley, Ella Guest
BACKGROUND: Cleft lip and/or palate (CL/P) poses many challenges for those affected throughout the school years, with recent studies pointing to a trend in poor educational outcomes. Previous research has highlighted the important role that teachers play in supporting young people with chronic health conditions yet studies in the field of CL/P suggest that teachers may lack knowledge of the condition, and underestimate pupils' academic ability. Qualitative investigation of the impact of CL/P from the teacher's perspective may provide additional insight as well as potential suggestions for improving the school experience for affected pupils...
January 1, 2018: Cleft Palate-craniofacial Journal
Suleima Carpeta, Tatiana Pineda, Maria Claudia Martínez, Gloria Osorio, Gloria Liliana Porras-Hurtado, Jorge Rojas, Ignacio Zarante, Olga María Moreno-Niño
The objective of this work was to identify 22q11.2 chromosomal deletion in patients with cleft lip and/or cleft palate and suggestive syndromic phenotype in Colombian patients. We studied 49 patients with cleft lip and/or cleft palate, exhibiting additional clinical findings linked to 22q11.2 deletion syndrome. All patients underwent high-resolution G-banded karyotyping, multiplex ligation-dependent probe amplification, and clinical evaluation by a geneticist. Seven patients presented 22q11.2 deletion and 2 patients had other chromosomal abnormalities...
January 1, 2018: Cleft Palate-craniofacial Journal
Terumi Okada Ozawa, Luciana Lais Savero Reis, Renata Mayumi Kato, Diógenes Laercio Rocha, Renata Sathler, Daniela Gamba Garib
OBJECTIVE: To evaluate the aesthetics of nasolabial appearance and facial profile of children with unilateral cleft lip and palate (UCLP) submitted to 2-stage palate repair with vomerine flap. DESIGN: Retrospective. SETTING: Single center. PATIENTS: Forty patients with UCLP, mean age of 7.81 years of both sexes, rehabilitated at a single center by 1 plastic surgeon. INTERVENTIONS: Lip and anterior palate repair with nasal alar repositioning was performed at 3 to 6 months of age by Millard technique and vomer flap, respectively...
January 1, 2018: Cleft Palate-craniofacial Journal
Nicola Marie Stock, Kristin Billaud Feragen
Although cleft lip and/or palate (CL/P) has been a focus of psychological research for a number of years, investigation of adjustment to other, rarer craniofacial anomalies (CFAs) has been scarce. Yet, many features of the journey experienced by patients with CL/P could also have relevance for those affected by other CFAs and vice versa. This brief article summarizes the literature pertaining to psychological adjustment across both craniofacial groups, as represented by several prominent review articles. Similarities across the 2 patient groups in relation to key domains of psychological adjustment and corresponding factors are identified...
January 1, 2018: Cleft Palate-craniofacial Journal
Wendy Nicholls, Martin Persson, Suzanne Robinson, Linda Selvey
BACKGROUND: Living with a cleft condition involves many years of multidisciplinary therapy, treatment, and surgical intervention. This complex process may have both physical and psychosocial long-term impacts. There is limited evidence of the psychosocial impact of cleft on individuals in Australia. AIM: To obtain an understanding of the adult patient perception of having a cleft and explore the impact of the condition on their lives. DESIGN: Qualitative methodologies at one case study site in Western Australia...
January 1, 2018: Cleft Palate-craniofacial Journal
Nicola Marie Stock, Kristin Billaud Feragen
BACKGROUND: Recognition of the challenges inherent in psychology research related to cleft lip and/or palate (CL/P) and other craniofacial anomalies (CFAs) is far from novel; yet these challenges continue to limit progress within the field. The aim of the present article was to illustrate these challenges by utilizing data extracted from 2 recent literature reviews pertaining to psychological adjustment within CL/P and CFA research. DESIGN: Data relating to 148 CL/P and 41 CFA studies were extracted, summarized, and compared, using percentages, figures, and χ2 calculations...
January 1, 2018: Cleft Palate-craniofacial Journal
M Koťová, M Dušková, E Leamerová, W Urbanová, K Schwarzmannová, K Novotná, A Sukop
This article presents orthodontic-surgical treatment in an eight-year-old patient with bilateral cleft lip and palate where premaxilla was surgically repositioned in the mixed dentition stage. By cranial and dorsal insertion of the premaxilla were created satisfactory occlusal relationship for ongoing eruption of permanent teeth, together with functional lip closure, improved pronunciation and a positive change in appearance of the centrofacial area. Reposition of premaxilla was associated with bilateral alveolar bone grafting of the cleft defect with cancellous bone from the iliac crest...
2018: Acta Chirurgiae Plasticae
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