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https://www.readbyqxmd.com/read/29240237/non-isolated-diaphragmatic-hernia-in-simpson-golabi-behmel-syndrome
#1
Karen Chong, Maha Saleh, Marie Injeyan, Ioana Miron, Katherine Fong, Patrick Shannon
OBJECTIVE: Congenital diaphragmatic hernia (CDH) is associated with Simpson-Golabi-Behmel syndrome (SGBS), but few cases diagnosed prenatally have been reported. The aim of this series is to highlight the association of non-isolated CDH with SGBS type I on prenatal ultrasound and emphasize the importance of genetic testing, fetal autopsy and family history in confirming this diagnosis. METHOD: Retrospective review of three cases of SGBS type I in a single tertiary care centre...
December 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29232992/cleft-lip-and-palate-in-context-learning-from-and-adding-to-the-sociological-literature-on-long-term-conditions
#2
Raed Abualfaraj, Blanaid Daly, Fraser McDonald, Sasha Scambler
Cleft lip and palate is a common congenital anomaly affecting males and females. While there is psychological research on cleft lip and palate, there is relatively little research exploring the social context of cleft lip and palate and the experiences of living with the condition on a daily basis. Drawing on common themes emerging from sociological work which have explored the experiences of people living with long-term conditions (uncertainty, social relations, self-esteem and self-image and biomedical concerns), we argue that these themes can be used to help elucidate the experiences of people living with cleft lip and palate...
January 1, 2017: Health (London)
https://www.readbyqxmd.com/read/29232056/associations-between-laterality-of-orofacial-clefts-and-medical-and-academic-outcomes
#3
Emily R Gallagher, Babette Siebold, Brent R Collett, Timothy C Cox, Verena Aziz, Michael L Cunningham
Patients with oral clefts have an increased risk of other malformations, syndromes, and lower academic performance in school. Few studies have investigated if laterality of clefts is associated with medical and academic outcomes. Oral clefts have nonrandom laterality, with left-sided clefts occurring approximately twice as often as right-sided clefts. Using a retrospective study design, we examined potential associations of cleft attributes and outcomes in patients with cleft lip with or without cleft palate (CL/P) born in 2003-2010 who were treated at the Seattle Children's Craniofacial Center...
December 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29230162/a-novel-de-novo-fzd2-mutation-in-a-patient-with-autosomal-dominant-omodysplasia
#4
Seval Türkmen, Malte Spielmann, Nilay Güneş, Alexej Knaus, Ricarda Flöttmann, Stefan Mundlos, Beyhan Tüysüz
We described a heterozygous de novo mutation (G434V) in the frizzled class receptor 2 (FZD2) gene in a patient with distinct facial features including hypertelorism, bilateral cleft lip/palate, short nose with a broad nasal bridge, microretrognathia, and bilateral shortness of the upper limbs, first metacarpal bones, and middle phalanges of the 5th digits. The findings of our patient were compared to an autosomal dominant omodysplasia (OMOD2) family with FZD2 mutation reported in the literature. OMOD2 is a rare skeletal dysplasia and characterized by facial dysmorphism and shortness of the upper extremities and first metacarpal bones...
November 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29227409/differences-in-the-alignment-pattern-of-the-maxillary-dental-arch-following-fixed-orthodontic-treatment-in-patients-with-bilateral-cleft-lip-and-palate-anteroposterior-collapsed-arch-versus-transverse-collapsed-arch
#5
Mihee Hong, Seung-Hak Baek
The purpose of this study was to investigate differences in the alignment pattern of the collapsed maxillary arch following fixed orthodontic treatment (FOT) in bilateral cleft lip and palate (BCLP) patients according to collapse type. Fifteen BCLP patients were divided into Group 1 (anteroposterior-collapsed arch, n = 7) and Group 2 (transverse-collapsed arch, n = 8) according to maxillary arch shape before FOT. Linear and angular variables of lateral cephalograms and dental models were evaluated before (T1) and after FOT (T2), and statistical analysis was performed...
December 7, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29215449/seasonal-variation-of-orofacial-clefts
#6
Chrysis Sofianos, Efthimios A Christofides, Sibusiso E Phiri
BACKGROUND: Orofacial clefts represent the most common craniofacial malformation diagnosed at birth and may be divided into isolated cleft lip (CL), cleft lip and palate (CL/P), or isolated cleft palate (CP). The causes of orofacial clefts have long been understood to be multifactorial; however, research into the genetic and environmental factors underpinning these disorders in African populations is scant. Seasonal variation in the occurrence of orofacial clefts was investigated. Seasonal variation is defined as differences due to periodic, temporal, and external influences, namely the particular time or season of the year...
December 6, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29215438/mucosal-dehiscence-after-alveolar-bone-graft-in-cleft
#7
Giulia Amodeo, Domenico Scopelliti
Cleft lip and palate patient represent a challenging experience for the surgeon. This kind of patients had to be followed by a multidisciplinary team from the beginning to the end to avoid the deformation sequelae. During the several surgical procedures, the bone graft represents a possible procedure that, through the new procedure, could be avoided. Unfortunately, patient treated following the previous procedure must be submitted to alveolar bone graft to coordinate the arch, to restore the maxillary integrity, to allow the correct dentition...
December 6, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29211381/cleft-lip-and-palates-and-breastfeeding
#8
Elizabeth McGuire
No abstract text is available yet for this article.
March 2017: Breastfeeding Review: Professional Publication of the Nursing Mothers' Association of Australia
https://www.readbyqxmd.com/read/29211286/association-of-single-nucleotide-polymorphisms-in-axin2-bmp4-and-irf6-with-non-syndromic-cleft-lip-with-or-without-cleft-palate-in-a-sample-of-the-southeast-iranian-population
#9
Houshang Rafighdoost, Mohammad Hashemi, Hiva Danesh, Fatemeh Bizhani, Gholamreza Bahari, Mohsen Taheri
OBJECTIVES: Non-syndromic cleft lip with or without palate (NSCL/P) is a common congenital malformation worldwide, with complex etiology. It has been proposed that interaction of genes and environmental factors play a role in the predisposition to this disease. The aim of this study was to examine the association between AXIN2 (axis inhibition protein 2) rs7224837, BMP4 (bone morphogenetic protein 4) rs17563, and IRF6 (interferon regulatory factor 6) rs861019 and 2235371 polymorphisms and NSCL/P in an Iranian population...
November 2017: Journal of Applied Oral Science: Revista FOB
https://www.readbyqxmd.com/read/29207917/functional-effects-of-snps-in-myh9-and-risks-of-nonsyndromic-orofacial-clefts
#10
Y Wang, D Li, Y Xu, L Ma, Y Lu, Z Wang, L Wang, W Zhang, Y Pan
Nonsyndromic orofacial clefts (NSOCs) are congenital newborn malformations. Myosin heavy chain 9 ( MYH9) is a candidate gene of NSOCs. To investigate the associations between single-nucleotide polymorphisms (SNPs) of MYH9 and NSOC susceptibility, a 2-stage case-control study was designed and 4 potentially functional SNPs of MYH9 (rs12107, rs2269529, rs9619601, rs5756130) were selected and genotyped by iPLEX Sequenom MassARRAY and TaqMan assay in the first stage (599 NSOC cases and 590 controls). The significant SNPs in the first stage were replicated in the second stage (676 NSOC cases and 705 controls) by TaqMan assay...
December 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29204208/pallister-hall-syndrome
#11
Sadanandvalli Retnaswami Chandra, Mane Maheshkumar Daryappa, M A Mukheem Mudabbir, M Pooja, A Arivazhagan
Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this write-up, we report an extremely rare syndrome associated with polydactyly that is Pallister-Hall syndrome. A 10-month-old male child born by lower segment cesarean section presented with global delay associated with microcephaly, frontal bossing, hypertelorism, flat nose, short philtrum, incomplete cleft in the upper lip and hard palate, polydactyly, and syndactyly...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29202612/cone-beam-computed-tomography-imaging-of-superior-semicircular-canal-morphology-a-retrospective-comparison-of-cleft-lip-palate-patients-and-normal-controls
#12
Oğuzhan Altun, Suayip Burak Duman, Ibrahim Sevki Bayrakdar, Yasin Yasa, Sacide Duman, Sevcihan Günen Yılmaz
OBJECTIVE: This study evaluated the prevalence and morphological characteristics of the superior semicircular canal (SSCC) in cleft lip and palate (CL/P) patients using cone beam computed tomography (CBCT). MATERIALS AND METHODS: CBCT images of 53 CL/P patients (28 males and 25 females) and a control group of 76 patients (42 males and 34 females) were evaluated. Retrospectively, 258 temporal bone images from 129 patients were evaluated in terms of SSCC morphology and divided into a normal pattern (0...
December 4, 2017: Acta Odontologica Scandinavica
https://www.readbyqxmd.com/read/29201899/cephalometric-soft-tissue-characteristics-of-unilateral-cleft-lip-and-palate-patients-in-relation-to-missing-teeth
#13
Khalid A Almoammar, Hala A Almarhoon, Waeil Batwa, Nasser Alqahtani, Thikriat Al-Jewair, Sahar Albarakati
Objective: This study aimed to evaluate cephalometric soft tissue characteristics in individuals with unilateral complete cleft lip and palate (UCCLP) both with and without missing teeth. Design: A retrospective investigation of patient records, who are being treated at the cleft lip and palate (CLP) clinics at the College of Dentistry. Ninety-six consecutive records of nonsyndromic UCCLP subjects were recruited (33 subjects without missing teeth and 63 subjects with missing teeth)...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29201119/fordyce-happiness-program-and-performance-for-mothers-of-children-with-cleft-lip-and-palate-referring-healthcare-team-in-isfahan-university-of-medical-sciences-in-2015
#14
Zeinab Hemati, Samira Abbasi, Parastoo Oujian, Davood Kiani
Objective: The present study was conducted to investigate the effect of happiness program on performance for mothers of children with cleft lip and palate. Materials & Methods: In this semi experimental study, 64 mothers of children with cleft lip and palate referring healthcare team in Isfahan University of Medical Sciences, Iran were enrolled by simple random sampling in 2015. They were divided to two groups of control and intervention. Then, the program of happiness training was implemented within 10 sessions of two hours each and performance questionnaire were filled out prior two months after the last session...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29194721/initial-experiences-with-nam-assisted-primary-repair-of-the-bclp-deformity
#15
Sabarinath Prasad, Sreeja Ravindran, Vasanth Radhakrishnan, P V Hazarey, Amit Vanka, Bhavya Rajan
BACKGROUND: Primary surgical repair of the bilateral cleft lip and palate (BCLP) deformity is challenging. Infant Orthopedic (IO) procedures are often used to assist surgical reconstruction of normal anatomy. Nasoalveolar molding (NAM) is a presurgical infant orthopedic procedure that attempts to reduce the cleft nasal deformity, in addition to the lip and alveolus, leading to an esthetic primary surgical repair. OBJECTIVE: NAM provides the surgical team with a better foundation for an easier and more esthetic single stage repair at the level of nose in addition to the lip and alveolus...
December 1, 2017: Special Care in Dentistry
https://www.readbyqxmd.com/read/29194260/facial-anthropometric-evaluation-of-unilateral-cleft-lip-and-palate-patients-infancy-through-adolescence
#16
Mahboobe Dehghani, Arezoo Jahanbin, Maryam Omidkhoda, Mostafa Entezari, Elaheh Shadkam
INTRODUCTION: Craniofacial anthropometric studies measure the differences in humans' craniofacial dimensions. The aim of this study was to determine facial anthropometric dimensions of newborn to 12-year-old girls with nonsyndromic unilateral cleft lip and palate (UCLP). METHODS: In this cross-sectional analytical study, data was collected from 65 infant to 12-year old girls with UCLP. Digital frontal and profile facial photographs were transferred to a computer and desired anthropometric landmarks were traced on each image...
November 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29193429/recruiting-to-cohort-studies-in-specialist-healthcare-services-lessons-learned-from-clinical-research-nurses-in-uk-cleft-services
#17
Fabio Zucchelli, Nichola Rumsey, Kerry Humphries, Rhiannon Bennett, Amy Davies, Jonathan Sandy, Nicola Marie Stock
AIM: This study aimed to explore the experiences of clinical research nurses recruiting patients in a large specialist care-based cohort study. BACKGROUND: Longitudinal studies are vital to better understand the aetiology and moderators of health conditions. This need is especially salient for congenital conditions, such as cleft lip and/or palate, where establishing large, comprehensive datasets from birth is vital to improve understanding and to inform interventions...
November 29, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/29193427/the-electrical-activity-of-the-masticatory-muscles-in-children-with-cleft-lip-and-palate
#18
Liliana Szyszka-Sommerfeld, Krzysztof Woźniak, Teresa Matthews-Brzozowska, Beata Kawala, Marcin Mikulewicz, Monika Machoy
BACKGROUND: Information regarding masticatory muscle function in children with cleft lip and palate (CLP) is limited. As a consequence, research on masticatory muscle activity in cleft subjects is needed. AIM: To assess masticatory muscle activity in children surgically treated for CLP as well as identify the possible factors associated with this activity. DESIGN: The sample comprised 82 children with mixed dentition and Class I occlusions (25 children with unilateral CLP and 57 subjects with no cleft abnormalities)...
November 28, 2017: International Journal of Paediatric Dentistry
https://www.readbyqxmd.com/read/29192349/placement-of-an-antibiotic-oral-pack-on-the-hard-palate-after-primary-cleft-palatoplasty-a-randomized-controlled-trial-into-the-effect-on-fistula-rates
#19
Rajgopal R Reddy, Srinivas Gosla Reddy, Bhavya Banala, Ewald M Bronkhorst, Ann W Kummer, Anne Marie Kuijpers-Jagtman, Stefaan J Bergé
OBJECTIVE: The objective of this study is to determine whether placement of an antibiotic oral pack on the hard palate reduces fistula rates after primary cleft palatoplasty. SUBJECTS AND METHODS: This study was a parallel blocked randomized controlled trial. The study consisted of two groups of 100 patients each with non-syndromic unilateral complete cleft lip, alveolus, and hard and soft palate that underwent primary palatoplasty. Group A had an oral pack placed on the hard palate for 5 days postoperatively while group B did not...
November 30, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/29184738/nasal-duplication-combined-with-cleft-lip-and-palate-surgical-correction-and-long-term-follow-up
#20
Kanharith Long, Kazuaki Yamaguchi, Daniel Lonic, Vanna Long, Vuthy Chhoeurn, Lun-Jou Lo
Background: Diprosopus dirrhinus, or nasal duplication, is a rare entity of partial craniofacial duplication. Methods: The case we present is the first report of diprosopus dirrhinus associated with complete cleft lip and palate. The baby was born in Cambodia at full term by normal vaginal delivery with no significant perinatal and family history. Physical examination revealed significant facial deformity due to the duplicated nose and the left complete cleft lip/palate on the right subset...
October 2017: Plastic and Reconstructive Surgery. Global Open
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