Ryan H Belcher, James D Phillips
INTRODUCTION: Over the last 10-15 years, usage of internal mandibular distraction systems has increased in the pediatric population, particularly for craniofacial syndromes. Mandibular distraction osteogenesis (MDO) has been shown to be effective in avoiding tracheostomy or achieving early decannulation in patients with micro-retrognathic mandibles in hemifacial microsomia or Pierre Robin sequence. As the frequency of the application of MDO has increased, so has the awareness and management of subsequent complications from the procedure...
September 2020: International Journal of Pediatric Otorhinolaryngology
Juan Pablo Meza-Espinoza, Enrique Sáinz González, Christian J N León-León, Eliakym Arámbula-Meraz, José Alfredo Contreras-Gutiérrez, Noemí García-Magallanes, Jesús Madueña-Molina, Fred Luque-Ortega, Salvador Cervín-Serrano, Verónica Judith Picos-Cárdenas
Background: Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, fifth finger clinodactyly, congenital heart, and genitourinary defects, in addition to intellectual disability, developmental delay, and hypotonia, but more distal deletions involving 4q34-qter may result in milder phenotypes...
2020: Molecular Cytogenetics
Leo Li, Andrew R Scott
OBJECTIVE: To compare growth trends among infants with Pierre Robin sequence (PRS) to normal World Health Organization (WHO) growth standards. STUDY DESIGN: Case series with chart review. SUBJECTS AND METHODS: Twenty-four infants with syndromic and nonsyndromic PRS (54% male) treated at an urban academic medical center between 2009 and 2017 were included. Infants with symptomatic hypoventilation underwent mandibular distraction osteogenesis (71%)...
May 19, 2020: Otolaryngology—Head and Neck Surgery
Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S Liu, Alain Verloes, Amelle G Shillington, Kosuke Izumi, Alyssa L Ritter, Beth Keena, Elaine Zackai, Dong Li, Elizabeth Bhoj, Jennifer M Tarpinian, Emma Bedoukian, Mary K Kukolich, A Micheil Innes, Grace U Ediae, Sarah L Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R Subbaraman, Frank J Probst, Jennifer A Bassetti, Reid V Sutton, Richard A Gibbs, Chester Brown, Philip M Boone, Ingrid A Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance F Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan S Patel, Ana Bracho, Francisco Cammarata-Scalisi, Alper Gezdirici, Alberto Fernandez-Jaen, Natalie Hauser, Yuri A Zarate, Katherine A Bosanko, Klaus Dieterich, John C Carey, Jessica X Chong, Deborah A Nickerson, Michael J Bamshad, Brendan H Lee, Xiang-Jiao Yang, James R Lupski, Philippe M Campeau
PURPOSE: Genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called KAT6B disorders, whose variable expressivity is increasingly being recognized. METHODS: We herein present the phenotypes of 32 previously unreported individuals with a molecularly confirmed diagnosis of a KAT6B disorder, report 24 new pathogenic KAT6B variants, and review phenotypic information available on all published individuals with this condition...
May 19, 2020: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Anudeep Yekula, Connor Grant, Mihir Gupta, David R Santiago-Dieppa, Pate J Duddleston, David Gonda, Michael Levy
INTRODUCTION: The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS. METHODS: We explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion...
May 12, 2020: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Yinon Gilboa, Reuven Achiron, Zvi Kivilevitch, Alyssa Hochberg, Ron Bardin, Yaron Zalel, Sharon Perlman
OBJECTIVES: First arch syndromes are congenital defects caused by failure of neural crest cells to migrate into the first branchial arch. First arch syndrome is classified into 2 main clinical manifestations: Treacher Collins syndrome, characterized by bilateral underdevelopment of the zygomatic bones; and Pierre Robin sequence. The aim of this study was to describe the feasibility of visualization of the fetal zygomatic bone and assess its application in cases referred for features suggestive of first arch syndrome...
May 7, 2020: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
R X Ge, H Y Li, H M Wang, L Li, Y Y Wang, L H Zhong, X Y Wang, Y Lu, X T Wang
Objective: To explore the correlation between prenatal clinical data with etiological diagnosis and neonatal outcome in isolated fetal ascites. Methods: Totally, 36 pregnancy cases diagnosed as isolated fetal ascites by ultrasound in Provincial Hospital Affiliated to Shandong University from June 22nd, 2016 to September 28th, 2018 were collected. Invasive prenatal diagnosis was performed by taking fetal cord blood, amniotic fluid, and fetal ascites respectively for cytogenetics, molecular genetics and biochemical examination and the impact of intrauterine therapeutic procedures on neonatal outcomes was evaluated as well...
April 25, 2020: Zhonghua Fu Chan Ke za Zhi
Josip Tomic, Philipp Metzler, Andre Alcon, Norbert Jakse, Wolfgang Zemann, Monika Schanbacher, Tomislav A Zrnc
OBJECTIVE: To determine weight gain during treatment with the modified palatal plate (MPP) in infants with isolated and syndromic Pierre Robin Sequence (PRS) suffering from micrognathia, upper airway obstruction (UAO), and failure to thrive (FTT), the authors conducted a retrospective study of infants treated with the MPP. METHODS: The main outcome measure was infant weight (g) for up to three months after birth. Demographic and outcome data (associated syndromes, comorbidities, presence of cleft lip or palate, intubation attempts, tracheotomy and cleft repair) were collected...
June 2020: Journal of Cranio-maxillo-facial Surgery
Yanli Liu, Jiashuo Wang, Shan Zhong
BACKGROUND: Difficult tracheal intubation is a common problem encountered by anesthesiologists in the clinic. This study was conducted to assess the difficulty of tracheal intubation in infants with Pierre Robin syndrome (PRS) by incorporating computed tomography (CT) to guide airway management for anesthesia. METHODS: In this retrospective study, we analyzed case-level clinical data and CT images of 96 infants with PRS. First, a clinically experienced physician labeled CT images, after which the color space conversion, binarization, contour acquisition, and area calculation processing were performed on the annotated files...
April 8, 2020: BMC Anesthesiology
Mark E Herring, Catherine Lee, Jesse Taylor, Evlambia Hajishengallis
Infants diagnosed with Pierre Robin sequence frequently have airway obstruction. In severe cases of obstruction, mandibular distraction osteogenesis (MDO) can alleviate the airway blockage through elongation of the mandible and subsequent anterior placement of the tongue. However, there are several complications associated with MDO in the very young child. Among those are injuries to teeth that develop in the area of the MDO osteotomies. Such injuries include distalization and/or morphologic anomalies of primary and permanent molars...
January 15, 2020: Journal of Dentistry for Children
Laura S Humphries, Tulsi Roy, Anne Huang, John Collins, Fuad M Baroody, Russell R Reid
OBJECTIVE: To investigate airway morphology changes in patients with Pierre Robin sequence (PRS) pre-/post-mandibular distraction osteogenesis (MDO) and to compare morphologic changes to age-matched controls. DESIGN: Retrospective case-control study. SETTING: Urban, academic, tertiary medical center. PATIENTS, PARTICIPANTS: Fifteen patients with PRS after MDO to relieve upper airway obstruction (UAO) (2008-2018); age-matched controls for post-MDO patients...
July 2020: Cleft Palate-craniofacial Journal
Lydia Wuarin, Amanda I Gonzalez, Matthieu Zingg, Patrick Belinga, Pierre Hoffmeyer, Robin Peter, Anne Lübbeke, Axel Gamulin
BACKGROUND: The purpose of this study was to evaluate the association between epidemiological, clinical and radiographic factors of patients with tibial shaft fractures and the occurrence of acute compartment syndrome. METHODS: 270 consecutive adult patients sustaining 273 tibial shaft fractures between January 2005 and December 2009 were included in this retrospective cohort study. The outcome measure was acute compartment syndrome. Patient-related (age, sex), fracture-related (high- vs...
January 13, 2020: BMC Musculoskeletal Disorders
Peter Karempelis, Mitchell Hagen, Noelle Morrell, Brianne Barnett Roby
OBJECTIVES: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. METHODS: A retrospective chart review was performed to identify patients diagnosed with PRS over a 10-year period from 4/1/2007 to 4/1/2017 at a tertiary children's hospital...
April 2020: International Journal of Pediatric Otorhinolaryngology
Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D Overton, Jing Xiao, Ariel F Martinez, Maximilian Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah H Elsea, Valérie Cormier-Daire, Carlos R Ferreira
Catel-Manzke syndrome is characterized by the combination of Pierre Robin sequence and radial deviation, shortening as well as clinodactyly of the index fingers, due to an accessory ossification center. Mutations in TGDS have been identified as one cause of Catel-Manzke syndrome, but cannot be found as causative in every patient with the clinical diagnosis. We performed a chromosome microarray and/or exome sequencing in three patients with hand hyperphalangism, heart defect, short stature, and mild to severe developmental delay, all of whom were initially given a clinical diagnosis of Catel-Manzke syndrome...
April 2020: Bone
Jae-Jun Kim, Dong-Soon Choi, Insan Jang, Bong-Kuen Cha, In-Woo Park
Pierre Robin sequence (PRS) is characterized by the triad of micrognathia, glossoptosis, and airway obstruction. PRS does not have a single pathogenesis, but rather is associated with multiple syndromes. This report presents the case of a 35-year-old woman with PRS and scoliosis. Among the syndromes related to PRS, cerebro-costo-mandibular syndrome (CCMS), which is characterized by posterior rib gap defects and vertebral anomalies, was suspected in this patient. However, no posterior rib gap defect was detected on radiological examinations...
December 2019: Imaging Science in Dentistry
Julie Veziant, Karine Poirot, Caroline Chevarin, Lucie Cassagnes, Pierre Sauvanet, Benoit Chassaing, Frederic Robin, Catherine Godfraind, Nicolas Barnich, Denis Pezet, Bruno Pereira, Johan Gagniere, Mathilde Bonnet
INTRODUCTION: Colorectal cancer (CRC) is still associated with poor prognosis, especially in patients with advanced disease. Development of new prognostic tools replacing or supplementing those routinely used is definitely needed, with the aim to optimise and personalise treatment strategies. Gut microbiota composition and body composition profile (obesity, sarcopenia and metabolic syndrome) have recently been reported separately as new relevant prognostic factors for postoperative surgical and oncologic outcomes following CRC surgery...
January 7, 2020: BMJ Open
H Wang, G X Wang, J Zhao, F Jin, Y Xi, M Y Hei, J Zhang
Objective: To discuss the diagnosis and evaluation of upper airway obstruction in neonates, classify the possible causes of neonatal upper airway obstruction, establish a standardized diagnosis and treatment procedure to improve the of treatment efficacy. Method: Clinical data of 71 cases with upper airway obstruction history were retrospective analyzed, 38 cases were treated by combined medical and surgical treatment, 17 cases underwent medical treatment, 16 cases abandonment the treatment. The effectiveness of fibrolaryngoscope, CT, neck ultrasound, MRI and other results was evaluated, and to analyze the prognosis of the treatment, the outcomes and risk factors were also analysed, to evaluate risk factors associated with upper airway obstruction...
December 2019: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
Oksana A Jackson, Alison E Kaye, Alfred Lee, Nancy Minugh-Purvis, Marilyn A Cohen, Cynthia B Solot, Donna McDonald-McGinn, Abbas F Jawad, Elaine H Zackai, Richard E Kirschner
PURPOSE: The purpose of this study was to characterize airway problems, speech outcomes, and facial growth in patients with Stickler syndrome undergoing cleft palate repair. METHODS: A retrospective, longitudinal study was performed at the Children's Hospital of Philadelphia on 25 patients with Stickler syndrome and 53 nonsyndromic patients with clefts of the secondary palate repaired between 1977 and 2000. Airway problems were characterized by the incidence of Pierre Robin Sequence (PRS) and the necessity for surgical airway management...
January 6, 2020: Annals of Plastic Surgery
Na Zhang, Zhe Mao, Yingqiu Cui, Yonghong Tan, Huanhuan Zhang, Xiaoxin Ye, Yingyi Xu
Mandibular distraction osteogenesis (MDO) is an effective treatment for tongue-based airway obstruction in infants with severe Pierre Robin sequence (PRS). Most infants receiving MDO require postoperative mechanical ventilation (MV) to assist breathing. Optimal MV time for each individual patient and factors influencing the time must be identified to guide clinical decision-making.A retrospective analysis was performed on 75 infants with PRS receiving MDO from November 2016 to August 2018. Twenty-six were females and 47 were males...
December 2019: Medicine (Baltimore)
Julia Zimmermann, Daniel J Stubbs, Allan J Richards, Philip Alexander, Annie M McNinch, Basil Matta, Martin P Snead
BACKGROUND: Patients with Stickler syndrome often require emergency surgery and are often anesthetized in nonspecialist units, typically for retinal detachment repair. Despite the occurrence of cleft palate and Pierre-Robin sequence, there is little published literature on airway complications. Our aim was to describe anesthetic practice and complications in a nonselected series of Stickler syndrome cases. To our knowledge, this is the largest such series in the published literature. METHODS: We retrospectively identified patients with genetically confirmed Stickler syndrome who had undergone general anesthesia in a major teaching hospital, seeking to identify factors that predicted patients who would require more than 1 attempt to correctly site an endotracheal tube (ETT) or supraglottic airway device (SAD)...
December 16, 2019: Anesthesia and Analgesia
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