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Pierre Robin Sequence

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https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#1
Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27833343/distraction-osteogenesis-for-management-of-severe-osa-in-pierre-robin-sequence-an-approach-to-elude-tracheostomy-in-infants
#2
N K Sahoo, I D Roy, Shamsher Dalal, Amit Bhandari
BACKGROUND: Severe obstructive sleep apnoea (OSA) is a life threatening condition associated with Pierre Robin sequence (PRS) due to mandibular micrognathia and glossoptosis. Often these patients require tracheostomy at an early age which has high morbidity. Distraction osteogenesis (DO) is an accepted method of treatment for patients with hypoplastic mandible to achieve mandibular lengthening without need for a bone graft. It has also been used in respiratory distressed neonates and infants to avoid tracheostomy...
December 2016: Journal of Maxillofacial and Oral Surgery
https://www.readbyqxmd.com/read/27748028/a-chinese-patient-with-toriello-carey-syndrome-and-an-interstitial-deletion-of-3q
#3
Lulu Xie, Xianqiong Luo, Jie Yang, Junping Wang, Chuan Nie, Zhu Wang
Toriello-Carey syndrome (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, unusual facial appearance, and other anomalies. Tracheal or laryngeal anomalies are reported as a common manifestation of T-CS. These anomalies can lead to respiratory distress and respiratory tract infection. The cause of T-CS is unknown, although there have been reports of patients with a clinical diagnosis of T-CS and a chromosome anomaly...
October 17, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27729133/does-canal-wall-down-mastoidectomy-benefit-syndromic-children-with-congenital-aural-stenosis
#4
Phayvanh P Sjogren, Richard K Gurgel, Albert H Park
OBJECTIVES: To determine whether a canal wall down mastoidectomy can provide long-term benefit for children with aural stenosis. METHODS: Retrospective case series of children with congenital aural stenosis having undergone a canal wall down mastoidectomy over a twelve-year period at a tertiary children's hospital. RESULTS: Data from thirteen children who underwent a total of twenty canal wall down mastoidectomies for aural stenosis were reviewed...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27723379/a-case-report-of-absent-epiglottis-in-children-with-nager-syndrome-its-impact-on-swallowing
#5
Sok Yan Tay, Woei Shyang Loh, Thiam Chye Lim
OBJECTIVE:   This clinical report is the first literature report exploring the issues of an absent epiglottis in children diagnosed with Nager syndrome. Nager syndrome has previously been described in children with Pierre Robin sequence and other syndromes. CONCLUSION:   The function of the epiglottis and its contribution to swallowing has always been debated. In this article and from our literature review, we felt that absent epiglottis possibly contributed to the aspiration risk and may partly explain the long-term feeding issues in these children despite corrective surgeries...
October 10, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27718360/does-mandibular-distraction-vector-influence-airway-volumes-and-outcome
#6
Elizabeth G Zellner, Julie M Mhlaba, Russell R Reid, Derek Steinbacher
PURPOSE: The goal of mandibular distraction in the Pierre-Robin sequence is to maximally expand the oropharyngeal airway. It has been hypothesized that a steep oblique distraction vector might allow greater airway enlargement compared with horizontal distraction. This study compared vector orientation in relation to airway volume and overall clinical outcome. MATERIALS AND METHODS: Micrognathic infants who underwent mandibular distraction with sufficient computed tomographic data were retrospectively reviewed...
September 13, 2016: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/27717910/a-case-of-constitutional-trisomy-3-mosaicism-in-a-teenage-patient-with-mild-phenotype
#7
Mariana Kekis, Sayaka Hashimoto, Carol Deeg, Inga Calloway, Aimee McKinney, Christine Shuss, Scott Hickey, Caroline Astbury
Constitutional mosaicism for trisomy 3 is extremely rare, with only a few postnatally diagnosed cases reported in the literature. We report a case of constitutional trisomy 3 mosaicism in a 16-year-old female, who presented with chronic joint pain, easy bruising, joint hypermobility and dysmorphic features, including long, thin facies, over-folded dysplastic ears, and Pierre-Robin sequence (PRS) with cleft palate. The patient was small at birth, had cleft palate repair, developed chronic joint pain at age 12, and has a history of mild leukopenia and mild thrombocytopenia...
October 4, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27712809/genetic-evaluation-for-craniofacial-conditions
#8
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
https://www.readbyqxmd.com/read/27619035/numerical-modeling-of-the-traction-process-in-the-treatment-for-pierre-robin-sequence
#9
Jakub J Słowiński, Aleksandra Czarnecka
INTRODUCTION: The goal of this numerical study was to identify the results of modulated growth simulation of the mandibular bone during traction in Pierre-Robin Sequence (PRS) treatment. METHODS: Numerical simulation was conducted in the Ansys 16.2 environment. Two FEM (finite elements method) models of a newborn's mandible (a spatial and a flat model) were developed. The procedure simulated a 20-week traction period. The adopted growth measure was mandibular length increase, defined as the distance between the Co-Pog anatomic points used in cephalometric analysis...
October 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27619032/sleep-architecture-in-pierre-robin-sequence-the-effect-of-mandibular-distraction-osteogenesis
#10
J N Bangiyev, H Traboulsi, I Abdulhamid, A Rozzelle, P J Thottam
INTRODUCTION: Pierre-Robin Sequence (PRS), a triad of micro/retrognathia, glossoptosis, and upper airway obstruction, usually in conjunction with a cleft palate is frequently associated with significant morbidity. Mandibular distraction osteogenesis (MDO) is an effective treatment modality to address retroglossal upper airway obstruction by increasing the anterior-posterior diameter of the infant airway. Although MDO has been shown to improve the apnea-hypopnea index (AHI) in children with PRS, the consequences of MDO on other aspects of infant sleep, including hypercapnea, hypoxia, the REM to Non-REM ratio, as well as its effect on central and mixed apneas has not been investigated with an adequate sample size...
October 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27563606/pierre-robin-sequence-subdivision-data-theories-and-treatment-part-4-recommended-management-and-treatment-of-pierre-robin-sequence-and-its-application
#11
Kurt-W Bütow, Sharan Naidoo, Roger Arthur Zwahlen, Jean A Morkel
CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and early management...
January 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/27563605/pierre-robin-sequence-subdivision-data-theories-and-treatment-part-3-prevailing-controversial-theories-related-to-pierre-robin-sequence
#12
Kurt-W Bütow, Roger Arthur Zwahlen, Jean A Morkel, Sharan Naidoo
CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the early management...
January 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/27563604/pierre-robin-sequence-subdivision-data-theories-and-treatment-part-2-syndromic-and-nonsyndromic-pierre-robin-sequence
#13
Kurt-W Bütow, Jean A Morkel, Sharan Naidoo, Roger Arthur Zwahlen
CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in the scientific literature, relating to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the early management...
January 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/27563603/pierre-robin-sequence-subdivision-data-theories-and-treatment-part-1-history-subdivisions-and-data
#14
Kurt-W Bütow, Roger Arthur Zwahlen, Jean A Morkel, Sharan Naidoo
CONTEXT: The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the timing of management...
January 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/27549381/braddock-carey-syndrome-a-21q22-contiguous-gene-syndrome-encompassing-runx1
#15
Stephen R Braddock, Sarah T South, Joshua D Schiffman, Maria Longhurst, Leslie R Rowe, John C Carey
In 1994, Braddock and Carey first reported two unrelated girls with a new multiple malformation syndrome. The primary features included Pierre Robin sequence, persistent neonatal-onset thrombocytopenia, agenesis of the corpus callosum, a distinctive facies, enamel hypoplasia, and severe developmental delay. Since that time, there have been multiple other reported patients with a similar phenotype. In addition, several reports of thrombocytopenia and developmental delay have been documented in association with deletions in the Down syndrome critical region at 21q22...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27548826/a-systematic-review-of-the-effectiveness-of-tongue-lip-adhesion-in-improving-airway-obstruction-in-children-with-pierre-robin-sequence
#16
Alex Viezel-Mathieu, Tyler Safran, Mirko S Gilardino
BACKGROUND: Tongue-lip adhesion (TLA) involves surgically tethering the tongue forward to the lower lip and is a technique to relieve airway obstruction caused by glossoptosis and retrognathia. The purpose of the present study was to evaluate the effectiveness of TLA for the treatment of airway compromise in patients with Pierre Robin sequence (PRS). METHODS: A comprehensive literature review was performed. Inclusion criteria consisted of patients having undergone isolated tongue lip adhesion and results that included airway outcome...
September 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27441703/regarding-airway-management-in-pierre-robin-sequence-patterns-of-practice
#17
E T van Lierop, S A Al-Ani, R Vidyadharan, R Slator
No abstract text is available yet for this article.
July 21, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27438445/cervical-instability-in-pierre-robin-sequence-an-addition-to-the-algorithm
#18
Rebecca M Barr, Sabina A Khan, Manish N Shah, Soham Roy, John F Teichgraeber, Matthew R Greives
Many patients with Pierre Robin sequence (PRS) have associated birth defects, most commonly in association with abnormalities in bone or cartilage formation. Depending on severity, treatment of PRS ranges from nonoperative management with prone positioning to surgical intervention such as distraction osteogenesis. Generally, if a surgical approach is needed, these patients undergo nasal endoscopy or direct laryngoscopy with their intubation, which puts the cervical spine in a position of extreme extension. The authors present a patient with syndromic PRS secondary to Sticklers syndrome, with a cervical abnormality diagnosed with three-dimensional computed tomography and further evaluated with dynamic lateral plain x-rays to assess cervical instability...
October 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27414091/outcome-following-surgical-interventions-for-micrognathia-in-infants-with-pierre-robin-sequence-a-systematic-review-of-the-literature
#19
Athari Almajed, Alex Viezel-Mathieu, Mirko S Gilardino, Roberto L Flores, Sunil S Tholpady, Aurore Côté
BACKGROUND:   Tongue-lip adhesion (TLA), mandibular distraction osteogenesis (MDO), and subperiosteal release of the floor of the mouth (SPRFM) are the most commonly performed surgical procedures to treat severe airway obstruction in infants born with Pierre Robin sequence (PRS). OBJECTIVES:   To determine the rate of failure of each type of procedure, in terms of mortality and the need for tracheostomy, and to determine what proportion of infants have significant airway obstruction postoperatively as determined by polysomnography (PSG) and compare the data by procedure type...
July 14, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27378721/logistic-regression-analysis-of-pierre-robin-sequence-patients-requiring-surgical-intervention
#20
Steven Goudy, Pawina Jiramongolchai, Sivakumar Chinnadurai
OBJECTIVES/HYPOTHESIS: Determine predictive patient characteristics that guide the decision to proceed with surgical management of tongue-based airway obstruction (TBAO) in Pierre Robin sequence (PRS) patients. STUDY DESIGN: Retrospective review of PRS patients between 2005 and 2014 requiring observation in the neonatal intensive care unit (NICU). METHODS: Patient charts were reviewed for prenatal diagnoses, clinical course, and need for surgical intervention (tracheotomy or mandibular distraction osteogenesis), and the nonsurgical and surgical group were compared with a logistic regression model...
July 5, 2016: Laryngoscope
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