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Facial cleft

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
G J Roode, K-W Bütow, S Naidoo
To identify the pathogenic micro-organisms that had colonised preoperatively in clefts in the soft palate and oro-nasopharynx, we retrospectively studied the preoperative microbiological profiles of 200 infants who had had primary repair of all types of cleft in the soft palate. Data from a private practice that specialises in the repair of facial clefts were extracted randomly from patients' files. We analysed the results of the culture of preoperative swabs taken from clefts in the soft palate and oro-nasopharynx, and the resistance profile of organisms towards various antibiotics...
October 10, 2016: British Journal of Oral & Maxillofacial Surgery
D K Dias, P D Fernando, R D Dissanayake
INTRODUCTION: Oro-facial clefts involving the palate is the commonest structural defect causing velopharyngeal insufficiency (VPI) and poor intelli gibility of speech. Proper repair of the soft palateis a surgical challenge. Posterior-based buccinator myomucosal flap (BMF) is used to lengthen the soft palate of patients who undergo primary palatoplasty at Teaching Hospital, Karapitiya (THK). BMF is a good choice for the repair of medium sized mucosal defects in the oral cavity since it has appropriate thickness, contains mucous membrane with mucous glands and has a rich blood supply...
2016: Ceylon Medical Journal
Franz Alisch, Alexander Weichert, Karim Kalache, Viola Paradiso, Ann Carolin Longardt, Christof Dame, Katrin Hoffmann, Denise Horn
Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant disorder characterized by contractures of upper and lower limbs. It is distinguishable from other forms of distal arthrogryposis by cleft palate and short stature. Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development...
October 7, 2016: American Journal of Medical Genetics. Part A
Ashley M Dao, Steven L Goudy
Repair of the cleft palate intends to establish the division between the oral and nasal cavity, thereby improving feeding, speech, and eustachian tube dysfunction all while minimizing the negative impact on maxillary growth. Before palate repair candidacy, timing and surgical method of repair is dependent on comorbid conditions, particularly cardiac disease, mandibular length, and palate width. Additionally, management of the alveolar cleft and the indications for gingivoperiosteoplasty versus secondary alveolar bone grafting is a controversial topic that weighs the risks and benefits of potentially sparing the patient an additional surgery against iatrogenic restriction of facial growth and malocclusion...
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
María Paz Bidondo, Boris Groisman, Agostina Tardivo, Fabián Tomasoni, Verónica Tejeiro, Inés Camacho, Mariana Vilas, Rosa Liascovich, Pablo Barbero
BACKGROUND: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. METHODS: This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). RESULTS: The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29)...
October 5, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Wilson E Sadoh, Paul Ikhurionan, Charles Imarengiaye
BACKGROUND: A pre-anaesthestic echocardiogram (echo) is requested for most non-cardiac surgeries to identify possible cardiac structural anomalies. OBJECTIVE: To describe the prevalence and spectrum of structural cardiac abnormalities seen in various non-cardiac conditions. METHODS: We carried out a retrospective review of pre-anaesthetic echos performed over five years on children scheduled for non-cardiac surgery. The requests were categorised according to referring specialities, and the biodata and echo findings were noted...
September 9, 2016: Cardiovascular Journal of Africa
M Phan, F Conte, K D Khandelwal, C W Ockeloen, T Bartzela, T Kleefstra, H van Bokhoven, M Rubini, H Zhou, C E L Carels
Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal models. The aim of the present systematic review is to thoroughly investigate the current literature (PubMed, EMBASE) to identify the genes and genomic loci contributing to syndromic or non-syndromic co-occurrence of tooth agenesis and orofacial clefts, to gain insight into the molecular mechanisms underlying their dual involvement in the development of teeth and facial primordia...
December 2016: Human Genetics
Dimitrios Kloukos, Piotr Fudalej, Patrick Sequeira-Byron, Christos Katsaros
BACKGROUND: Cleft lip and palate is one of the most common birth defects and can cause difficulties with feeding, speech and hearing, as well as psychosocial problems. Treatment of orofacial clefts is prolonged; it typically commences after birth and lasts until the child reaches adulthood or even into adulthood. Residual deformities, functional disturbances, or both, are frequently seen in adults with a repaired cleft. Conventional orthognathic surgery, such as Le Fort I osteotomy, is often performed for the correction of maxillary hypoplasia...
September 30, 2016: Cochrane Database of Systematic Reviews
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
D Markov, E Pavlova, D Atanassova, M Irina, M Peter, S Veneta
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
D Atanassova, E Pavlova, I Markova, P Markov, V Stoykova, D Markov, S Patishanov, G Radinski
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
A A Al Ibrahim, S Al-Obaidly, K Kalache, N Khenyab
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
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
Elaine Lustosa-Mendes, Ana Paula Dos Santos, Nilma Lúcia Viguetti-Campos, Társis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes
We report a boy carrying a recombinant chromosome 18, with terminal deletion of 10.8 Mb from 18p11.32 to 18p11.21 and a terminal duplication of 22.8 Mb from 18q21.31 to 18q23, resulting from a maternal pericentric inversion of the chromosome 18. He presented with poor growth, developmental delay, facial dysmorphisms, surgically repaired left cleft lip and palate, a mild form of holoprosencephaly characterized by single central incisor and agenesis of the septum pellucidum, and body asymmetry. Based on the systematic review of the literature, we discuss genotype-phenotype correlation and the risk for the recombinants of pericentric inversions of chromosome 18...
September 15, 2016: American Journal of Medical Genetics. Part A
Jennifer Fuller, David Drake, Andrew Felstead, Serryth Colbert
Speech defects and facial appearance due to untreated cleft lip and/or palate in the elderly population have associated life-long impacts on the quality of life for these patients. Treatment and rehabilitation in this patient group can be extensive and the problems not easily corrected. We report the outcomes of surgical repair of cleft in a series of elderly patients with unrepaired cleft lip and/or palate. Our results confirm an improvement in speech, quality of life and aesthetic outcomes after surgical repair in these patients...
September 15, 2016: Cleft Palate-craniofacial Journal
Ching Ching Yew, Mohammad Khursheed Alam, Shaifulizan Abdul Rahman
OBJECTIVES: This study is to evaluate the dental arch relationship and palatal morphology of unilateral cleft lip and palate patients by using EUROCRAN index, and to assess the factors that affect them using multivariate statistical analysis. METHOD: A total of one hundred and seven patients from age five to twelve years old with non-syndromic unilateral cleft lip and palate were included in the study. These patients have received cheiloplasty and one stage palatoplasty surgery but yet to receive alveolar bone grafting procedure...
October 2016: International Journal of Pediatric Otorhinolaryngology
C S Paththinige, N D Sirisena, U G I U Kariyawasam, L P C Saman Kumara, V H W Dissanayake
A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4...
2016: Case Reports in Genetics
Nanda Kishore Sahoo, Ajay P Desai, Indranil Deb Roy, Vishal Kulkarni
Breach in the palatal vault leading to an abnormal communication between oral and nasal cavity is known as oro-nasal communication. It is an uncommon presentation in day-to-day clinical practice except in some patients of cleft lip and palate.Etiology may be congenital or acquired. Alveolar and palatal cleft defects are the most common etiological factor. The acquired causes may be trauma, periapical pathology, infections, neoplasms, postsurgical complications, and radio and chemo necrosis.Clinical features like nasal regurgitation of food, defective speech, fetid odor, bad taste, and upper respiratory tract and ear infection are associated with oro-nasal communication...
September 2016: Journal of Craniofacial Surgery
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