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Pierre Robin Sequence

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https://www.readbyqxmd.com/read/28557592/ameloblastic-fibro-odontoma-of-the-maxilla-in-a-pierre-robin-sequence-patient
#1
Kenneth Kufta, Steve Kang, Faizan Alawi, Anna Moran, Neeraj Panchal
INTRODUCTION: Pierre Robin sequence (PRS) is a rare disorder classically observed as a triad of features including micrognathia, glossoptosis, and upper airway obstruction. It is associated with a syndrome in about 60% of cases. While odontogenic tumors are common findings in patients with familial adenomatous polyposis and nevoid basal cell carcinoma syndromes, PRS has not been found to be consistently associated with any tumors of the jaw. CASE REPORT: The current report aims to describe a patient with PRS who presented with an extensive ameloblastic fibro-odontoma (AFO) of the maxilla...
May 30, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28449865/flexible-feeding-obturator-for-early-intervention-in-infants-with-pierre-robin-sequence
#2
Ruta Jadhav, Santosh Nelogi, Sounyala Rayannavar, Raghunath Patil
Pierre Robin sequence presents with distinct features of retrognathia and glossoptosis with or without cleft palate, which results in potentially serious, life-threatening respiratory obstruction and feeding complications. A multidisciplinary approach is required to manage such complex features. This article describes a novel technique for managing Pierre Robin sequence using a flexible feeding obturator. This custom-made intraoral appliance overcomes numerous problems associated with the available feeding obturators and helps infants and parents cope with a variety of difficulties...
April 25, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/28424158/generation-of-a-multipurpose-prdm16-allele-by-targeted-trapping
#3
A Strassman, F Schnütgen, Q Dai, J C Jones, A C Gomez, L Pitstick, N E Holton, R Moskal, E R Leslie, H von Melchner, D R Beier, B C Bjork
Gene trap mutagenesis is a powerful tool to create loss-of-function mutations in mice and other model organisms. Modifications of traditional gene trap cassettes, including addition of conditional features in the form of Flip-excision (FlEx) arrays enabling directional gene trap cassette inversions by Cre and Flpe site-specific recombinases, greatly enhanced their experimental potential. By taking advantage of these conditional gene trap cassettes, we developed a generic strategy for generating conditional mutations and validated this strategy in mice carrying a multipurpose allele of the Prdm16 transcription factor gene...
April 19, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28422407/mutations-in-tgds-associated-with-additional-malformations-of-the-middle-fingers-and-halluces-atypical-catel-manzke-syndrome-in-a-fetus
#4
Katharina Schoner, Rainer Bald, Denise Horn, Helga Rehder, Uwe Kornak, Nadja Ehmke
Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28418932/bmpr1b-mutation-causes-pierre-robin-sequence
#5
Yongjia Yang, Jianying Yuan, Xu Yao, Rong Zhang, Hui Yang, Rui Zhao, Jihong Guo, Ke Jin, Haibo Mei, Yongqi Luo, Liu Zhao, Ming Tu, Yimin Zhu
BACKGROUND: We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY: This study aims to determine the genetic cause of PRS. RESULTS: The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and GRM4. We hypothesized that PRS in this family was caused by (i) haploinsufficiency for BMPR1B or (ii) a gain of function mechanism mediated by the BMPR1B-GRM4 fusion gene...
April 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28372992/the-effects-of-clinical-factors-on-airway-outcomes-of-mandibular-distraction-osteogenesis-in-children-with-pierre-robin-sequence
#6
REVIEW
X C Ren, Z W Gao, Y F Li, Y Liu, B Ye, S S Zhu
Mandibular distraction osteogenesis (MDO) is an effective treatment for tongue-based airway obstruction in children with severe Pierre Robin sequence. An investigation was performed to determine whether certain clinical factors influence the airway outcomes of MDO. A literature search of several databases was performed to identify studies providing individual patient data. Data extracted from the studies included patient sex, age at distraction, disease type, experience of any previous surgery on the airway, length of distraction, pre- and postoperative blood oxygen saturation nadir, and osteotomy design...
July 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28350680/airway-and-feeding-outcomes-of-mandibular-distraction-tongue-lip-adhesion-and-conservative-management-in-pierre-robin-sequence-a-prospective-study
#7
Ibrahim Khansa, Courtney Hall, Lauren L Madhoun, Mark Splaingard, Adriane Baylis, Richard E Kirschner, Gregory D Pearson
BACKGROUND: Pierre Robin sequence is characterized by mandibular retrognathia and glossoptosis resulting in airway obstruction and feeding difficulties. When conservative management fails, mandibular distraction osteogenesis or tongue-lip adhesion may be required to avoid tracheostomy. The authors' goal was to prospectively evaluate the airway and feeding outcomes of their comprehensive approach to Pierre Robin sequence, which includes conservative management, mandibular distraction osteogenesis, and tongue-lip adhesion...
April 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28328130/targeted-molecular-investigation-in-patients-within-the-clinical-spectrum-of-auriculocondylar-syndrome
#8
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
#9
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
#10
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
#11
REVIEW
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...
May 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28150392/loss-of-function-mutations-in-kif15-underlying-a-braddock-carey-genocopy
#12
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, 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...
May 2017: Human Mutation
https://www.readbyqxmd.com/read/28109641/three-dimensional-airways-volumetric-analysis-before-and-after-fast-and-early-mandibular-osteodistraction
#13
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
#14
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
#15
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
#16
MULTICENTER STUDY
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
#17
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
#18
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
#19
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
#20
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
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