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Pierre Robin Sequence

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https://www.readbyqxmd.com/read/28328130/targeted-molecular-investigation-in-patients-within-the-clinical-spectrum-of-auriculocondylar-syndrome
#1
Vanessa L Romanelli Tavares, Roseli M Zechi-Ceide, Debora R Bertola, Christopher T Gordon, Simone G Ferreira, Gabriella S P Hsia, Guilherme L Yamamoto, Suzana A M Ezquina, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Renato S Freitas, Josiane Souza, Cesar A Raposo-Amaral, Mayana Zatz, Jeanne Amiel, Maria L Guion-Almeida, Maria Rita Passos-Bueno
Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28288578/case-report-of-pierre-robin-sequence-with-severe-upper-airway-obstruction-who-was-rescued-by-fiberoptic-nasotracheal-intubation
#2
Satoru Takeshita, Hiroko Ueda, Tatenobu Goto, Daisuke Muto, Hiroki Kakita, Kazuo Oshima, Takahisa Tainaka, Takayuki Ono, Yoshiaki Kazaoka, Yasumasa Yamada
BACKGROUND: Pierre Robin sequence (PRS) refers to the association of micrognathia, glossoptosis, and airway obstruction. Cases with severe dyspnea due to upper airway obstruction immediately after birth are very rare. We here report two cases with PRS who developed severe dyspnea due to morphological abnormality immediately after birth and were rescued by fiberoptic nasotracheal intubation. CASE PRESENTATION: The patient in case 1 had micrognathia and cleft palate, and his tongue protruded into the nasal cavity via a cleft palate...
March 14, 2017: BMC Anesthesiology
https://www.readbyqxmd.com/read/28197218/polysomnographic-findings-in-infants-with-pierre-robin-sequence
#3
Abdullah Khayat, Saadoun Bin-Hassan, Suhail Al-Saleh
INTRODUCTION: Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and upper airway obstruction. It is commonly associated with the secondary cleft palate. Infants with PRS commonly have sleep-disordered breathing (SDB); including obstructive sleep apnea (OSA) as well as central sleep breathing abnormalities that are present from infancy. AIM OF THE STUDY: Evaluate the prevalence and severity of SDB in infants with PRS using polysomnography (PSG)...
January 2017: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/28193305/tongue-lip-adhesion-and-tongue-repositioning-for-obstructive-sleep-apnoea-in-pierre-robin-sequence-a-systematic-review-and-meta-analysis
#4
M Camacho, M W Noller, S Zaghi, L K Reckley, C Fernandez-Salvador, E Ho, B Dunn, D K Chan
OBJECTIVE: To search for studies on tongue-lip adhesion and tongue repositioning used as isolated treatments for obstructive sleep apnoea in children with Pierre Robin sequence. METHODS: A systematic literature search of PubMed/Medline and three additional databases, from inception through to 8 July 2016, was performed by two authors. RESULTS: Seven studies with 90 patients (59 tongue-lip adhesion and 31 tongue repositioning patients) met the inclusion criteria...
February 14, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28150392/loss-of-function-mutations-in-kif15-underlying-a-braddock-carey-genocopy
#5
Patrick M A Sleiman, Michael March, Kenny Nguyen, Lifeng Tian, Renata Pellegrino, Cuiping Hou, Walid Dridi, Mohamed Sager, Yousef H Housawi, Hakon Hakonarson
Braddock-Carey Syndrome (BCS) is characterized by microcephaly, congenital thrombocytopenia the Pierre-Robin sequence (PRS) and agenesis of the corpus callosum. BCS has been shown to be caused by a 21q22.11 microdeletion that encompasses multiple genes. Here we report a BCS genocopy characterized by congenital thrombocytopenia and PRS that is caused by a loss of function mutation in KIF15 in a consanguineous Saudi Arabian family. Mutations of mitotic kinesins are a well established cause of microcephaly. To our knowledge KIF15 is the first kinesin to be associated with congenital thrombocytopenia...
February 1, 2017: Human Mutation
https://www.readbyqxmd.com/read/28109641/three-dimensional-airways-volumetric-analysis-before-and-after-fast-and-early-mandibular-osteodistraction
#6
Valerio Ramieri, Emanuela Basile, Giulio Bosco, Elena Caresta, Paola Papoff, Piero Cascone
PURPOSE: Newborns with Pierre Robin sequence (PRS) and syndromic micrognathia show microgenia and glossoptosis, which cause reduction of the airway and breathing difficulty from birth. Our goal is to analyze quantitative and qualitative volumetric changes before and after fast and early mandibular osteodistraction (FEMOD) and to compare radiological data. METHODS: The sample was composed of 4 patients, who satisfied inclusion criteria for completeness of data. Computed tomography pre- and post-operation were performed, then a volumetric assessment was made with Dolphin Imaging...
March 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28068523/rs12941170-at-sox9-gene-associated-with-orofacial-clefts-in-chinese
#7
Zhong-Lin Jia, Sha He, Shu-Yuan Jiang, Bi-He Zhang, Shi-Jun Duan, Jia-Yu Shi, Ning Huang, Wen-Chao Zhu, Bing Shi
OBJECTIVE: Non-syndromic orofacial cleftings (NSOCs) are considered as complex trait, which results from genetic and/or environmental modifiers. Current findings could only explain small portion of the NSOCs. SOX9 gene plays an important role during craniofacial development in animal models and the Pierre Robin sequence (PRS). However, its role in non-syndromic clefts remains unknown. DESIGN: In this study, we selected eight SNPs in and around SOX9 gene to make maximum coverage, and genotyped them by using RFLP-PCR and ligase detection reaction (LDR) methods to test its associations among 151 NSOCs (53 NSCLP, 52 NSCLO and 46 NSCPO) from Western Han Chinese population...
December 30, 2016: Archives of Oral Biology
https://www.readbyqxmd.com/read/28028964/genetic-factors-in-selected-complex-congenital-malformations-with-cleft-defect
#8
REVIEW
Piotr Wójcicki, Maciej J Koźlik, Karolina Wójcicka
Cleft lips, alveolar ridges and palates are among the most common birth defects. There are over 500 different complex genetic disorders that include cleft defects. The most common related defects include abnormalities of the skeleton, skull, cardiovascular and nervous system. The occurrence of a cleft results from the interplay of multiple genes and environmental factors. Several thousand different mutations responsible for these syndromes have been discovered, whereas there are still numerous phenotypic cases of unknown genetic origin...
September 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28027240/gastrostomy-placement-rates-in-infants-with-pierre-robin-sequence-a-comparison-of-tongue-lip-adhesion-and-mandibular-distraction-osteogenesis
#9
Srinivas M Susarla, Gerhard S Mundinger, Christopher C Chang, Edward W Swanson, Denver Lough, S Alex Rottgers, Richard J Redett, Anand R Kumar
BACKGROUND: This study was conducted to compare the gastrostomy rates in infants with Pierre Robin sequence treated with tongue-lip adhesion or mandibular distraction osteogenesis. METHODS: This was a retrospective study of symptomatic plastic and reconstructive surgery patients treated over an 8-year period. The primary predictor variable was surgical intervention (tongue-lip adhesion or distraction osteogenesis). Secondary predictor variables were categorized as demographic and clinical factors...
January 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28027184/piezosurgery-an-asset-in-treatment-of-pierre-robin-sequence
#10
Divya Singh, Pushkar Gadre, Kiran Gadre, Shandilya Ramanojam
Pierre Robin sequence (formerly a syndrome) is named after the French stomatologist who, in 1923 and 1934, described the problems associated with micrognathia in newborn. It comprises mandibular micrognathia, U-shaped cleft palate, and glossoptosis. The typical symptoms are hypoxaemia, noisy breathing, snoring, stridor, cyanosis, bradycardia, feeding difficulties, and failure to thrive. Distraction osteogenesis has recently been considered as a surgical option for early intervention to lengthen the mandible and relieve respiratory problems...
March 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27976556/functional-outcomes-of-mandibular-distraction-for-the-relief-of-severe-airway-obstruction-and-feeding-difficulties-in-neonates-with-pierre-robin-sequence
#11
Ersoy Konaş, Mert Çalış, Ozan Bitik, Şule Yiğit, Ayşe Korkmaz, Murat Yurdakök, Gökhan Tunçbilek
The purpose of this study was to review the application of mandibular distraction to relieve severe airway obstruction or feeding problems of neonates. Thirteen neonates with Pierre Robin sequence who underwent bilateral mandibular distraction between 2010 and 2013 for relief of their severe airway obstruction or feeding problems were retrospectively reviewed. The mean preoperative and postoperative airway diameters were 3.89±1.64 and 9.03±1.98 mm. respectively and significant difference was observed with distraction (p < 0...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27955642/short-stature-platyspondyly-hip-dysplasia-and-retinal-detachment-an-atypical-type-ii-collagenopathy-caused-by-a-novel-mutation-in-the-c-propeptide-region-of-col2a1-a-case-report
#12
Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Heterozygous mutations in COL2A1 create a spectrum of clinical entities called type II collagenopathies that range from in utero lethal to relatively mild conditions which become apparent only during adulthood. We aimed to characterize the clinical, radiological, and molecular features of a family with an atypical type II collagenopathy. CASE PRESENTATION: A family with three affected males in three generations was described. Prominent clinical findings included short stature with platyspondyly, flat midface and Pierre Robin sequence, severe dysplasia of the proximal femora, and severe retinopathy that could lead to blindness...
December 12, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27920635/clinical-and-molecular-characterisation-of-children-with-pierre-robin-sequence-and-additional-anomalies
#13
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
#14
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
#15
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
#16
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
#17
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
#18
Elizabeth G Zellner, Julie M Mhlaba, Russell R Reid, Derek M 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...
January 2017: 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
#19
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...
November 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27712809/genetic-evaluation-for-craniofacial-conditions
#20
REVIEW
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
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