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craniofacial cleft

Eva Meia Rüegg, Paul Gniadek, Ali Modarressi, Denise Baratti-Mayer, Brigitte Pittet-Cuénod
INTRODUCTION: Reconstruction of facial bone defects in children is challenging. The use of well-vascularized bone is mandatory to obtain stable lasting results. This study reports our experience of facial bone reconstruction using prefabricated vascularized calvarium flaps. METHODS: Retrospective case series of 50 patients who underwent 52 maxillary, malar, and mandibular reconstructions between 1988 and 2014 using prefabricated vascularized calvarium flaps. Forty-nine patients suffered from noma sequels; one patient had craniofacial cleft Tessier 3-11...
September 10, 2016: Journal of Cranio-maxillo-facial Surgery
Suleyman Kutalmiş Buyuk, Mevlut Celikoglu, Yasin Atakan Benkli, Ahmet Ercan Sekerci
AIM: The aim of the study was to evaluate the transverse craniofacial morphology of the adolescent patients affected by unilateral cleft lip and palate (UCLP) and to compare the findings with age- and sex-matched control group without any cleft using their cone-beam computed tomography (CBCT) images. METHODS: The study sample (n = 56 patients; mean age: 14.35 ± 3.06 years) consisted of 26 UCLP (n = 26 patients; 10 women and 16 men; mean age: 13.70 ± 2...
October 2016: Journal of Craniofacial Surgery
Aaron L Morgan, Roger Cason, Christian A El Amm
Craniofacial clefts are rare entities, with an incidence reported as 1.43 to 4.85 per 100,000 births. The Tessier number 3 cleft, the most medial of the oblique clefts, can manifest as clefting of the lip between the canine and lateral incisors, colobomas of the nasal ala and lower eyelid, and inferior displacement of the medial canthus-frequently disrupting the lacrimal system with extreme variability in expressivity (Eppley).Literature on cleft lip repair is extensive and has evolved to incorporate anthropometric techniques, based on identifiable landmarks and anthropometric measurements that are compared with contralateral unaffected anatomy or population means and tracked over time to assess impact on growth...
October 14, 2016: Journal of Craniofacial Surgery
Anna Maria Pinto, Valentina Imperatore, Laura Bianciardi, Margherita Baldassarri, Paolo Galluzzi, Simone Furini, Giovanni Centini, Alessandra Renieri, Francesca Mari
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal...
October 4, 2016: Clinical Dysmorphology
Bin Wang, Yuxi Zhou, Song Leng, Liyuan Zheng, Hong Lv, Fei Wang, Li-Hai Tan, Yimin Sun
Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial phenotypic differences, potential linkage between these two disorders has been suggested as prevalence of DD among NSCL/P patients was much higher than that in general populations. Previous neuroimaging studies observed impaired short-term memory in patients with DD and NSCL/P, respectively...
October 13, 2016: Journal of Human Genetics
Rounak B Rawal, Lauren A Kilpatrick, Jeyhan S Wood, Amelia F Drake
OBJECTIVE: To describe medical malpractice trends in patients with cleft and/or craniofacial abnormalities. METHODS AND MATERIALS: A modified Delphi approach was used to gather search terms. Search settings included "all jury verdicts and settlements", with jurisdiction of "all states" and "all federal courts" (by court and circuit). A retrospective review of WestLawNext legal database was conducted. Cases were excluded if they did not have a direct association from the patient's craniofacial anomaly or if they were not related to malpractice...
November 2016: International Journal of Pediatric Otorhinolaryngology
Aurora Ibarra-Arce, Tania Albavera-Giles, Beatriz Zavaleta-Villa, Gabriela Ortiz de Zárate-Alarcón, Laura Flores-Peña, María Del Carmen Sierra-Romero, Mirza Romero-Valdovinos, Angélica Olivo-Díaz
OBJECTIVE: Non-syndromic cleft lip/palate malformation (CL/P) is one of the most common birth defects in humans and has a complex etiology involving genetic and environmental factors. Mutations in the MSX1 gene are critical during craniofacial development. The purpose of this study was to investigate the contribution of MSX1 gene polymorphisms to the risk of developing CL/P in a sample of Mexican patients. METHODS: The sample consisted of 282 subjects (69 cases and 213 relatives)...
November 2016: International Journal of Pediatric Otorhinolaryngology
Ryan Winters
Tessier's classification system for rare craniofacial clefts remains the most widely used today. It denotes the position of the cleft process in a schema based around the orbit, and facilitates communication between surgeons regarding these complicated conditions. Tessier's classification is reviewed in detail, and a separate discussion of hypertelorism (increased distance between the bony orbits) follows, focusing on orbital hypertelorism in the setting of craniofacial clefts.
November 2016: Facial Plastic Surgery Clinics of North America
Ann W Kummer
Children with craniofacial anomalies often demonstrate disorders of speech and/or resonance. Anomalies that affect speech and resonance are most commonly caused by clefts of the primary palate and secondary palate. This article discusses how speech-language pathologists evaluate the effects of dental and occlusal anomalies on speech production and the effects of velopharyngeal insufficiency on speech sound production and resonance. How to estimate the size of a velopharyngeal opening based on speech characteristics is illustrated...
November 2016: Facial Plastic Surgery Clinics of North America
Howard M Saal
There are thousands of craniofacial disorders, each with a different etiology. All cases of orofacial clefts have an underlying genetic cause, ranging from multifactorial with an underlying genetic predisposition to chromosomal and single-gene etiologies. More than 50% of cases of Pierre Robin sequence are syndromic and 25% of craniosynostoses are syndromic. Clinical genetics evaluation is important for each patient with a craniofacial condition to make a proper diagnosis, counsel the family, and assist in management...
November 2016: Facial Plastic Surgery Clinics of North America
Mauro S Porcel de Peralta, Valeria S Mouguelar, María Antonella Sdrigotti, Felipe A A Ishiy, Roberto D Fanganiello, Maria R Passos-Bueno, Gabriela Coux, Nora B Calcaterra
Treacher Collins Syndrome (TCS) is a rare congenital disease (1:50 000 live births) characterized by craniofacial defects, including hypoplasia of facial bones, cleft palate and palpebral fissures. Over 90% of the cases are due to mutations in the TCOF1 gene, which codifies the nucleolar protein Treacle. Here we report a novel TCS-like zebrafish model displaying features that fully recapitulate the spectrum of craniofacial abnormalities observed in patients. As it was reported for a Tcof1(+/-) mouse model, Treacle depletion in zebrafish caused reduced rRNA transcription, stabilization of Tp53 and increased cell death in the cephalic region...
October 6, 2016: Cell Death & Disease
Hillary L Broder, Maureen Wilson-Genderson, Lacey Sischo
PURPOSE: This paper evaluated the impact of cleft-related surgery on the oral health-related quality of life (OHRQoL) of youth with cleft over time. METHODS: Data were derived from a 5-year, multi-center, prospective, longitudinal study of 1196 youth with cleft lip and/or palate and their caregivers. Eligible youth were between 7.5 and 18.5 years old, spoke English or Spanish, and were non-syndromic. During each observational period, which included baseline, and 1- and 2-year post-baseline follow-up visits, youths and their caregivers completed the Child Oral Health Impact Profile, a validated measure of OHRQoL...
October 3, 2016: Quality of Life Research
J Rodrigo Diaz-Siso, Natalie M Plana, John T Stranix, Court B Cutting, Joseph G McCarthy, Roberto L Flores
Contemporary plastic surgery residents are increasingly challenged to learn a greater number of complex surgical techniques within a limited period. Surgical simulation and digital education resources have the potential to address some limitations of the traditional training model, and have been shown to accelerate knowledge and skills acquisition. Although animal, cadaver, and bench models are widely used for skills and procedure-specific training, digital simulation has not been fully embraced within plastic surgery...
October 2016: Plastic and Reconstructive Surgery
Sibylle Sabrautzki, Michael A Sandholzer, Bettina Lorenz-Depiereux, Robert Brommage, Gerhard Przemeck, Ingrid L Vargas Panesso, Alexandra Vernaleken, Lillian Garrett, Katharina Baron, Ali O Yildirim, Jan Rozman, Birgit Rathkolb, Christine Gau, Wolfgang Hans, Sabine M Hoelter, Susan Marschall, Claudia Stoeger, Lore Becker, Helmut Fuchs, Valerie Gailus-Durner, Martin Klingenspor, Thomas Klopstock, Christoph Lengger, Leuchtenberger Stefanie, Eckhard Wolf, Tim M Strom, Wolfgang Wurst, Martin Hrabě de Angelis
Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene (Ednra c.386A>T, p.Tyr129Phe) derived by an ENU mutagenesis program. The identical amino acid substitution was reported recently as disease causing in three individuals with the mandibulofacial dysostosis with alopecia (MFDA, OMIM 616367) syndrome...
September 26, 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
Wanda Urbanova, Irena Klimova, Andrzej Brudnicki, Petra Polackova, Daniela Kroupova, Ivana Dubovska, Martin Rachwalski, Piotr Stanislaw Fudalej
Results of a comparison of the outcomes of treatment of cleft lip and palate can be affected by growth characteristics of populations from which subjects with the clefts are derived. Moreover, conventional cephalometric techniques used in cleft studies for analysis of facial morphology provide only a partial description of shape and are confounded by biases regarding the reference structures. In this retrospective comparison, craniofacial morphology of preadolescent patients with unilateral cleft lip and palate treated in Warsaw (n = 35, age = 10...
June 17, 2016: Journal of Cranio-maxillo-facial Surgery
Hani Yoo, Jung Min Ko, Byung Chan Lim, Hae Il Cheong
Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder with variable clinical phenotypes, including brachycephaly, hypertelorism, and a bifid nasal tip. Moreover, longitudinal splittings of the nails and skeletal abnormalities may accompany this condition. CFNS is inherited in an X-linked dominant manner; however, affected heterozygous females exhibit additional and more severe manifestations compared with affected hemizygous males, paradoxically. Here, we report for the first time in Korea two girls with molecularly confirmed CFNS...
September 2016: Annals of Clinical and Laboratory Science
Jeffrey C Posnick, Jorge Perez, Anish Chavda
PURPOSE: The purpose of this study was to assess for the maintenance of a corrected occlusion and ongoing mandibular growth in a group of patients younger than 26 years with hemimandibular elongation (HME) who underwent bimaxillary orthognathic reconstruction. MATERIALS AND METHODS: We conducted a retrospective cohort study of HME patients operated on by a single surgeon at 1 institution between 1999 and 2013. At a minimum, all patients underwent Le Fort I and bilateral sagittal ramus osteotomies...
August 24, 2016: Journal of Oral and Maxillofacial Surgery
I F P M Kappen, G K P Bittermann, R M Schouten, D Bittermann, E Etty, R Koole, M Kon, A B Mink van der Molen, C C Breugem
OBJECTIVES: The aim of this study is to evaluate long-term facial growth in adults previously treated for an isolated unilateral complete cleft lip, alveolus and palate by two-stage palatoplasty. MATERIALS AND METHODS: Unilateral cleft lip and palate (UCLP) patients of 17 years and older treated by two-stage palatoplasty were invited for long-term follow-up. During follow-up, lateral cephalograms were obtained (n = 52). Medical history was acquired from their medical files...
September 16, 2016: Clinical Oral Investigations
Xiaoran Ma, Bradley McPherson, Lian Ma
OBJECTIVES: Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should not be ignored since abnormal auditory cortical structures have been found in populations with cleft disorders...
2016: PeerJ
Petra Cela, Marek Hampl, Katherine K Fu, Michaela Kunova Bosakova, Pavel Krejci, Joy M Richman, Marcela Buchtova
MORN5 (MORN repeat containing 5) is encoded by a locus positioned on chromosome 17 in the chicken genome. The MORN motif is found in multiple copies in several proteins including junctophilins or phosphatidylinositol phosphate kinase family and the MORN proteins themselves are found across the animal and plant kingdoms. MORN5 protein has a characteristic punctate pattern in the cytoplasm in immunofluorescence imaging. Previously, MORN5 was found among differentially expressed genes in a microarray profiling experiment of the chicken embryo head...
2016: Frontiers in Physiology
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