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Facial clefts

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https://www.readbyqxmd.com/read/28634783/the-treatment-for-the-first-branchial-cleft-anomalies-in-children
#1
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
#2
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
https://www.readbyqxmd.com/read/28606330/recognition-of-children-on-age-different-images-facial-morphology-and-age-stable-features
#3
Zuzana Caplova, Valentina Compassi, Silvio Giancola, Daniele M Gibelli, Zuzana Obertová, Pasquale Poppa, Remo Sala, Chiarella Sforza, Cristina Cattaneo
The situation of missing children is one of the most emotional social issues worldwide. The search for and identification of missing children is often hampered, among others, by the fact that the facial morphology of long-term missing children changes as they grow. Nowadays, the wide coverage by surveillance systems potentially provides image material for comparisons with images of missing children that may facilitate identification. The aim of study was to identify whether facial features are stable in time and can be utilized for facial recognition by comparing facial images of children at different ages as well as to test the possible use of moles in recognition...
July 2017: Science & Justice: Journal of the Forensic Science Society
https://www.readbyqxmd.com/read/28604150/breastfeeding-after-early-repair-of-cleft-lip-in-newborns-with-cleft-lip-or-cleft-lip-and-palate-in-a-baby-friendly-designated-hospital
#4
Iva Burianova, Katarina Kulihova, Veronika Vitkova, Jan Janota
BACKGROUND: Goals of treatment of orofacial cleft are to improve feeding, speech, hearing, and facial appearance. Early surgery brings faster healing, better cosmetic effect, and fewer complications. Breastfeeding rates after early surgery are unknown. Early repair of the cleft lip may influence breastfeeding rates. Research aim: The aim of this study was to evaluate breastfeeding after early repair of the cleft lip in a Baby-Friendly designated hospital. The rate of breastfeeding in newborns with cleft lip was compared to cleft lip and palate...
June 1, 2017: Journal of Human Lactation: Official Journal of International Lactation Consultant Association
https://www.readbyqxmd.com/read/28602382/value-in-oral-and-maxillofacial-surgery-a-systematic-review-of-economic-analyses
#5
Benjamin Geisler, Yisi D Ji, Zachary S Peacock
PURPOSE: The purpose of this study is to describe the state of economic analyses in the field of oral and maxillofacial surgery (OMS). MATERIALS AND METHODS: A systematic search of published literature up to 2016 was performed. The inclusion criteria were as follows: English-language articles on economic analyses pertaining to OMS including anesthesia and pain management; dentoalveolar surgery; orthognathic, cleft, and/or obstructive sleep apnea treatment; pathology; reconstruction; temporomandibular disorders; trauma; and other...
May 18, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28591521/changes-in-face-specific-neural-processing-explain-reduced-cuteness-and-approachability-of-infants-with-cleft-lip
#6
Renske Huffmeijer, Janna Eilander, Viara R Mileva-Seitz, Ralph C A Rippe
The current study investigated whether changes in the neural processing of faces of infants with a facial abnormality - a cleft lip - mediate effects of the cleft lip on judgments of infant cuteness and approachability. Event-related potentials (ERPs) in response to pictures of faces of healthy infants and infants with a cleft lip, and ratings of cuteness and approachability of these infant faces, were obtained from 30 females. Infants with a cleft lip were rated as less attractive (less cute and approachable) than healthy infants, and both the N170 and P2 components of the ERP were of reduced amplitude in response to pictures of infants with a cleft lip...
June 18, 2017: Social Neuroscience
https://www.readbyqxmd.com/read/28582959/supernumerary-nostril-two-years-follow-up
#7
Amir Labib, Ahmed Elshahat
Supernumerary nostril is a very rare congenital anomaly of the nose. Since the first patient reported by Lindsay in 1906, few number of patients were reported in the literature. Various types had been described with different surgical modalities for correction. It can be isolated or associated with other malformations such as facial cleft, esophageal atresia, and imperforate anus. Most of the patients are unilateral, but it may be bilateral. It may have a communication with a normal nasal cavity or not.In this study, the authors present a case of a 1-year-old male with a positive perinatal history of teratogen exposure had isolated supernumerary left nostril with communication to the nasal cavity...
June 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28573092/current-methods-for-the-treatment-of-alveolar-cleft
#8
REVIEW
Nak Heon Kang
Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. The treatment goals for alveolar cleft are stabilization and provision of bone continuity to the maxillary arch, permitting support for tooth eruption, eliminating oronasal fistulas, providing an improved esthetic result, and improving speech. Treatment protocols vary in terms of the operative time, surgical techniques, and graft materials. Early approaches including boneless bone grafting (gingivoperiosteoplasty) and primary bone graft fell into disfavor because they impaired facial growth, and they remain controversial...
May 2017: Archives of Plastic Surgery
https://www.readbyqxmd.com/read/28570403/nasolabial-growth-in-individuals-with-unilateral-cleft-lip-and-palate-a-preliminary-study-of-longitudinal-observation-using-three-dimensional-stereophotogrammetry
#9
Omar Alazzawi, Daichi Morioka, Mai Miyabe, Yasusoshi Tosa, Fumio Ohkubo, Shinya Yoshimoto
There are limited numbers of studies comparing the preoperative and postoperative facial features of infants with unilateral cleft lip and palate (UCLP) using three-dimensional (3D) stereophotogrammetry. The authors attempted an anthropometric analysis of nasolabial asymmetry 1 year after primary lip repair using a handheld 3D imaging system. Five different nasolabial dimensions in 24 infants with UCLP were measured using 3D images captured during primary lip repair and again, 1 year after the repair. The nasal and upper-lip elements of the cleft side were significantly changed after primary lip repair, and nasolabial asymmetry was anthropometrically improved...
May 31, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28559208/novel-splice-mutation-in-lrp4-causes-severe-type-of-cenani-lenz-syndactyly-syndrome-with-oro-facial-and-skeletal-symptoms
#10
Muhammad Afzal, Qamar Zaman, Uwe Kornak, Stefan Mundlos, Sajid Malik, Ricarda Flöttmann
Cenani-Lenz syndactyly syndrome (CLSS; MIM-212780) is a rare autosomal recessive limb malformation characterized by complete osseous fusion of all fingers and toes, disorganization of phalangeal elements and severe shortening of the radius and ulna. It is occasionally associated with renal hypoplasia, oro-facial defects, scoliosis of the thoracic spine, hearing loss, and genital anomalies. Here we describe a consanguineous Pakistani kindred with a severe form of CLSS characterized by complete syndactyly and disorganization of fingers, oligo-syndactyly of toes, shortening of limbs, frontal bossing, and hypoplasia/agenesis of left kidney...
May 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28552202/comparison-of-two-and-three-dimensional-assessment-methods-of-nasolabial-appearance-in-cleft-lip-and-palate-patients-do-the-assessment-methods-measure-the-same-outcome
#11
David G M Mosmuller, Thomas J Maal, Charlotte Prahl, Robin A Tan, Frans J Mulder, Roderic M F Schwirtz, Henrica C W de Vet, Stefaan J Bergé, J P W Don Griot
OBJECTIVE: For the assessment of the nasolabial appearance in cleft patients, a widely accepted, reliable scoring system is not available. In this study four different methods of assessment are compared, including 2D and 3D asymmetry and aesthetic assessments. METHODS: The data and ratings from an earlier study using the Asher-McDade aesthetic index on 3D photographs and the outcomes of 3D facial distance mapping were compared to a 2D aesthetic assessment, the Cleft Aesthetic Rating Scale, and to SymNose, a computerized 2D asymmetry assessment technique...
April 19, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#12
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
June 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28507866/establishing-content-validity-of-the-cleft-q-a-new-patient-reported-outcome-instrument-for-cleft-lip-palate
#13
Elena Tsangaris, Karen W Y Wong Riff, Tim Goodacre, Christopher R Forrest, Marieke Dreise, Jonathan Sykes, Tristan de Chalain, Karen Harman, Aisling O'Mahony, Andrea L Pusic, Lehana Thabane, Achilleas Thoma, Anne F Klassen
BACKGROUND: The CLEFT-Q is a new patient-reported outcome instrument designed to measure outcomes that matter to patients. The aim of this qualitative study was to establish content validity of the CLEFT-Q in patients who differ by age and culture. METHODS: Patients aged between 6 and 29 years were recruited from plastic surgery clinics in Canada, India, Ireland, the Philippines, the Netherlands and the United States. Healthcare providers and other experts participated in a focus group or provided individual feedback...
April 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28500832/combined-pituitary-hormone-deficiency-in-a-girl-with-48-xxxx-and-rathke-s-cleft-cyst
#14
Surabhi Uppal, Youn Hee Jee, Marissa Lightbourne, Joan C Han, Constantine A Stratakis
BACKGROUND: Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke's cleft cyst (RCC) is a remnant of Rathke's pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella. METHODS/RESULTS: The patient was diagnosed with tetrasomy X by karyotyping during infancy. Brain MRI and multiple endocrine stimulation tests revealed RCC and combined pituitary hormone deficiency (growth hormone deficiency, secondary adrenal insufficiency and central hypothyroidism) likely due to RCC...
January 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28498505/autosomal-dominant-frontometaphyseal-dysplasia-delineation-of-the-clinical-phenotype
#15
Emma M Wade, Zandra A Jenkins, Philip B Daniel, Tim Morgan, Marie C Addor, Lesley C Adés, Debora Bertola, Axel Bohring, Erin Carter, Tae-Joon Cho, Christa M de Geus, Hans-Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C M Hennekam, Chong A Kim, Deborah Krakow, Eva Morava, Teresa Neuhann, David Sillence, Andrea Superti-Furga, Hermine E Veenstra-Knol, Dagmar Wieczorek, Louise C Wilson, David M Markie, Stephen P Robertson
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who lack a FLNA mutation. We previously also described a patient with a de novo variant in TAB2, which we hypothesized was causative of another form of AD-FMD. In this study, a cohort of 20 individuals with AD-FMD is clinically evaluated...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28496230/invasive-cervical-resorption-and-the-oro-facial-cleft-patient-a-review-and-case-series
#16
A O'Mahony, C McNamara, A Ireland, J Sandy, J Puryer
Introduction Invasive cervical resorption (ICR) has an unknown aetiology, yet it exhibits very aggressive behaviour compared with typical external root resorption, posing a high risk of tooth loss.Aim To investigate the number of patients at the Dublin Cleft Prosthodontic Department with an oro-facial cleft who experienced ICR and to identify any possible aetiological factors.Materials and method A retrospective investigation of all oro-facial cleft patients treated at the Dublin Cleft Prosthodontic Department, St James's Hospital, Dublin...
May 12, 2017: British Dental Journal
https://www.readbyqxmd.com/read/28486600/sclt1-deficiency-causes-cystic-kidney-by-activating-erk-and-stat3-signaling
#17
Jianshuang Li, Di Lu, Huadie Liu, Bart O Williams, Paul A Overbeek, Brendan Lee, Ling Zheng, Tao Yang
Ciliopathies form a group of inherited disorders sharing several clinical manifestations due to abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important for ciliogenesis. SCLT1 mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate, and polydactyly...
May 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28468209/management-of-a-large-frontal-encephalocoele-with-supraorbital-bar-remodeling-and-advancement
#18
Shaal Ramdial, Trishan Pillay, Anil Madaree
Of all the craniofacial abnormalities, facial clefts are the most disfiguring. Facial clefts are classified according to the affected anatomical area as described by Tessier. Through this classification, the location and extent of the cleft can be designated numerically.A 2-month-old male infant was referred to authors' craniofacial unit, from a hospital in a rural province of South Africa, with a problem of a supranasal encephalocoele. Bilateral raised eyebrows were noted as was a right-sided upper lid central third coloboma...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28454037/agricultural-expansion-as-risk-to-endangered-wildlife-pesticide-exposure-in-wild-chimpanzees-and-baboons-displaying-facial-dysplasia
#19
Sabrina Krief, Philippe Berny, Francis Gumisiriza, Régine Gross, Barbara Demeneix, Jean Baptiste Fini, Colin A Chapman, Lauren J Chapman, Andrew Seguya, John Wasswa
Prenatal exposure to environmental endocrine disruptors can affect development and induce irreversible abnormalities in both humans and wildlife. The northern part of Kibale National Park, a mid-altitude rainforest in western Uganda, is largely surrounded by industrial tea plantations and wildlife using this area (Sebitoli) must cope with proximity to human populations and their activities. The chimpanzees and baboons in this area raid crops (primarily maize) in neighboring gardens. Sixteen young individuals of the 66 chimpanzees monitored (25%) exhibit abnormalities including reduced nostrils, cleft lip, limb deformities, reproductive problems and hypopigmentation...
November 15, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28440577/variable-developmental-delays-and-characteristic-facial-features-a-novel-7p22-3p22-2-microdeletion-syndrome
#20
Andrea C Yu, Regina M Zambrano, Ingrid Cristian, Sue Price, Birgitta Bernhard, Marc Zucker, Sunita Venkateswaran, Jean McGowan-Jordan, Christine M Armour
Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of the 7p arm or have an additional copy number variation. Here, we report five patients with overlapping microdeletions at 7p22.3p22.2. The patients presented with variable developmental delays, exhibiting relative weaknesses in expressive language skills and relative strengths in gross, and fine motor skills. The most consistent facial features seen in these patients included a broad nasal root, a prominent forehead a prominent glabella and arched eyebrows...
June 2017: American Journal of Medical Genetics. Part A
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