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https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#1
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...
May 19, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
April 25, 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
#9
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
https://www.readbyqxmd.com/read/28435370/facial-profile-and-maxillary-arch-dimensions-in-unilateral-cleft-lip-and-palate-children-in-the-mixed-dentition-stage
#10
Vellore Kannan Gopinath, Ab Rani Samsudin, Siti Noor Fazliah Mohd Noor, Hady Youssef Mohamed Sharab
OBJECTIVES: The aim of this study was to evaluate the vertical and sagittal facial profile and maxillary arch width, depth, and length of patients with unilateral cleft lip and palate (UCLP) and to compare them with healthy noncleft children in the mixed dentition stage (7-13 years). MATERIALS AND METHODS: This study is conducted at Hospital Universiti Sains Malaysia. UCLP group comprised 48 patients with nonsyndromic UCLP who have had the lip and palate repaired, whereas the control group comprised 48 healthy noncleft cases...
January 2017: European Journal of Dentistry
https://www.readbyqxmd.com/read/28427835/maxillofacial-growth-and-speech-outcome-after-one-stage-or-two-stage-palatoplasty-in-unilateral-cleft-lip-and-palate-a-systematic-review
#11
Rajgopal R Reddy, Srinivas Gosla Reddy, Anitha Vaidhyanathan, Stefaan J Bergé, Anne Marie Kuijpers-Jagtman
BACKGROUND: The number of surgical procedures to repair a cleft palate may play a role in the outcome for maxillofacial growth and speech. The aim of this systematic review was to investigate the relationship between the number of surgical procedures performed to repair the cleft palate and maxillofacial growth, speech and fistula formation in non-syndromic patients with unilateral cleft lip and palate. MATERIAL AND METHODS: An electronic search was performed in PubMed/old MEDLINE, the Cochrane Library, EMBASE, Scopus and CINAHL databases for publications between 1960 and December 2015...
March 22, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28403134/early-computer-aided-design-computer-aided-modeling-planned-le-fort-i-advancement-with-internal-distractors-to-treat-severe-maxillary-hypoplasia-in-cleft-lip-and-palate
#12
Catherine S Chang, Jordan Swanson, Jason Yu, Jesse A Taylor
Traditionally, maxillary hypoplasia in the setting of cleft lip and palate is treated via orthognathic surgery at skeletal maturity, which condemns these patients to abnormal facial proportions during adolescence. The authors sought to determine the safety profile of computer-aided design/computer-aided modeling (CAD/CAM) planned, Le Fort I distraction osteogenesis with internal distractors in select patients presenting at a young age with severe maxillary retrusion. The authors retrospectively reviewed our "early" Le Fort I distraction osteogenesis experience-patients performed for severe maxillary retrusion (≥12 mm underjet), after canine eruption but prior to skeletal maturity-at a single institution...
April 11, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28393824/single-stage-correction-of-bilateral-tessier-4-cleft
#13
S M Balaji
Tessier facial clefts are among the rarest facial clefts reported in literature and many contradicting issues have always been rising over the management and surgical approaches involved during the craniofacial cleft repair. Among the craniofacial clefts Tessier no. 4 is an extremely rare facial anomaly, and there are very few evidence which clearly describe the surgical approaches and techniques. Often these type of craniofacial clefts yield very poor surgical results, and they require multidisciplinary sequential corrective surgeries...
January 2017: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28390064/pgap3-related-hyperphosphatasia-with-mental-retardation-syndrome-report-of-10-new-patients-and-a-homozygous-founder-mutation
#14
M S Abdel-Hamid, M Y Issa, G A Otaify, S F Abdel-Ghafar, H M Elbendary, M S Zaki
Hyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol pathway, including PGAP3. Herein, we describe 10 patients from 8 Egyptian families presenting with developmental delay, severe intellectual disability, distinct facial dysmorphism and increased alkaline phosphatase. Eight patients had cleft palate, four had postnatal microcephaly and five had seizures. Neuroimaging findings showed thin corpus callosum in 9 patients, mild ventriculomegaly in 3 patients and variable degrees of cerebellar vermis hypoplasia in 4 patients, a finding not previously reported in patients with HPMRS...
April 8, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28369014/a-comparative-analysis-of-rhbmp-2-dbm-vs-icbg-for-secondary-alveolar-bone-grafts-in-patients-with-cleft-lip-and-palate-review-of-501-cases
#15
Jeffrey A Hammoudeh, Artur Fahradyan, Daniel D Gould, Fan Liang, Thomas Imahiyerobo, Leo Urbinelli, JoAnna T Nguyen, William Magee, Stephen Yen, Mark M Urata
BACKGROUND: Alveolar cleft reconstruction using iliac crest bone graft(ICBG) is considered standard of care for children with complete cleft lip and palate at the time of mixed dentition. Harvesting bone may result in donor site morbidity, additional operating time and length of hospitalization. Recombinant human bone morphogenetic protein(rhBMP)-2 with a demineralized bone matrix(DBM) was used as an alternative bone source for alveolar cleft reconstruction. We investigate the outcomes of rhBMP-2/DBM versus ICBG for alveolar cleft reconstruction by reviewing postoperative surgical complications and cleft closure...
March 31, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28363736/systems-biology-of-facial-development-contributions-of-ectoderm-and-mesenchyme
#16
Joan E Hooper, Weiguo Feng, Hong Li, Sonia M Leach, Tzulip Phang, Charlotte Siska, Kenneth L Jones, Richard A Spritz, Lawrence E Hunter, Trevor Williams
The rapid increase in gene-centric biological knowledge coupled with analytic approaches for genomewide data integration provides an opportunity to develop systems-level understanding of facial development. Experimental analyses have demonstrated the importance of signaling between the surface ectoderm and the underlying mesenchyme are coordinating facial patterning. However, current transcriptome data from the developing vertebrate face is dominated by the mesenchymal component, and the contributions of the ectoderm are not easily identified...
March 29, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28356686/evaluating-the-use-of-octyl-2-cyanoacrylate-in-unilateral-cleft-lip-repair
#17
Vijaylaxmy Malhotra, J K Dayashankara Rao, Varun Arya, Shalender Sharma, Sushil Singh, Payal Luthra
BACKGROUND: Facial cosmetic results are one of the most concerning issues for the parents who get their children operated for cleft lip. Moreover, the postoperative care of the surgical site, the discomfort associated with the suture removal, and additional visit for suture removal are other reasons which encourages one to use any new technologies that may replace the need for suture placement. In this study, we used octyl-2-cyanoacrylate, a tissue adhesive which offers a viable alternative to traditional techniques without compromising optimal wound closure...
July 2016: National Journal of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28350678/ocular-morbidity-in-the-correction-of-orbital-hypertelorism-and-dystopia-a-15-year-experience
#18
Graeme E Glass, Kate A V Hon, Kemmy Schweibert, Richard Bowman, Barry M Jones, David J Dunaway, Jonathan A Britto
BACKGROUND: Complex surgery for appearance change is controversial. Correction of orbital hypertelorism risks diplopia and loss of stereopsis for aesthetic gain. The risk-to-benefit ratio remains ill-defined. The aim of this study was to define specific ocular morbidity following orbital translocation. METHODS: The authors compared stable preoperative and postoperative orthoptic indices (i.e., angle of strabismus, ocular motility, and acuity) for 23 consecutive patients who underwent orbital translocation between 2000 and 2015 and noted the requirement for corrective surgery...
April 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28346501/a-tissue-specific-role-for-intraflagellar-transport-genes-during-craniofacial-development
#19
Elizabeth N Schock, Jaime N Struve, Ching-Fang Chang, Trevor J Williams, John Snedeker, Aria C Attia, Rolf W Stottmann, Samantha A Brugmann
Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. Loss of functional primary cilia has a particularly profound effect on the developing craniofacial complex, causing several anomalies including craniosynostosis, micrognathia, midfacial dysplasia, cleft lip/palate and oral/dental defects. Development of the craniofacial complex is an intricate process that requires interactions between several different tissues including neural crest cells, neuroectoderm and surface ectoderm...
2017: PloS One
https://www.readbyqxmd.com/read/28332242/bilateral-oblique-facial-clefts-rudimentary-eyes-and-hydrocephalus-in-an-aborted-equine-foetus
#20
J S Agerholm, H G Pedersen, F J McEvoy, S Heegaard
Knowledge of congenital malformations and their causes in horses is generally sparse. Such conditions require more scientific attention to improve their diagnostics and inform prevention strategies. Here, a unique syndrome of bilateral oblique facial clefts (meloschisis), rudimentary eyes and hydrocephalus is reported in an equine foetus spontaneously aborted at gestation day 224. The cause of abortion was considered to be intrauterine death caused by umbilical cord torsions and subsequent compromised blood flow, but the aetiology of the malformation could not be determined...
March 22, 2017: Reproduction in Domestic Animals, Zuchthygiene
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