keyword
MENU ▼
Read by QxMD icon Read
search

Crouzons syndrome

keyword
https://www.readbyqxmd.com/read/28685259/extremely-large-sinus-pericranii-with-involvement-of-the-torcular-and-associated-with-crouzon-s-syndrome
#1
Felipe H Sanders, Bryan A Edwards, Matthew Fusco, Rod J Oskouian, R Shane Tubbs, James M Johnston
INTRODUCTION: Sinus pericranii is a rare vascular malformation that connects the intracranial dural sinuses to the extracranial venous drainage system and is caused by either trauma or congenital defects. Although the majority of these vascular structures are due to trauma, some are congenital. CASE REPORT: Herein, we report a 5-month-old patient with a very large and fluctuating subcutaneous mass over the occiput and the diagnosis of Crouzon's syndrome. The child presented with a large midline mass that on imaging, connected to the underlying torcular and was diagnosed as a sinus pericranii...
July 6, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28654610/what-s-new-in-syndromic-craniosynostosis-surgery
#2
Jesse A Taylor, Scott P Bartlett
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Understand the role of prenatal screening and counseling of parents of unborn children with syndromic craniosynostosis. 2. Recognize the genetic abnormalities, craniofacial phenotype, associated anomalies, and challenges associated with each of the five major forms of syndromic craniosynostosis. 3. Identify the pros and cons associated with timing and types of cranial vault remodeling techniques in this patient population...
July 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28611549/mutation-c-943g-t-p-ala315ser-in-fgfr2-causing-a-mild-phenotype-of-crouzon-craniofacial-dysostosis-in-a-three-generation-family
#3
Luitgard M Graul-Neumann, Eva Klopocki, Nicolai Adolphs, Martin A Mensah, Wolfram Kress
Crouzon syndrome craniofacial dysostosis type I [OMIM 123500] is caused by mutations in the gene encoding fibroblast growth factor receptor-2 (FGFR2). An overlapping phenotype with Muenke and Crouzon syndrome with acanthosis nigricans (FGFR3 mutations) is known. The clinical diagnosis can be corroborated by molecular studies in about 80-90% of the cases. No clear genotype/phenotype correlation has been identified yet. Here, we describe a second family with a mild phenotype in which the FGFR2 mutation c.943G>T leading to the amino acid substitution p...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28570459/alar-pinning-in-rigid-external-distraction-for-midfacial-hypoplasia
#4
Jenny L Yu, Albert S Woo
BACKGROUND: Distraction osteogenesis with a rigid external distractor is a widely accepted treatment for midfacial hypoplasia. In this study, the authors introduce the utilization of alar pinning with the external halo distractor for maxillary advancement, in place of an oral splint. METHODS: A retrospective chart review was conducted of 7 patients who successfully underwent distraction osteogenesis using the alar pinning technique. Midfacial hypoplasia was secondary to Crouzon syndrome (n = 4), Apert syndrome (n = 1), Pfeiffer syndrome (n = 1), or bacterial meningitis (n = 1)...
May 31, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28538070/one-stage-treatment-for-adult-patients-with-crouzonoid-appearance-by-orthognathic-and-face-contouring-surgery
#5
Byung Jun Kim, Hahn Sol Bae, Yoonho Lee
Crouzon syndrome is a rare genetic disorder with autosomal-dominant inheritance that shows a triad of hallmark characteristics: craniosynostosis, exophthalmos, and midface retrusion. General treatment protocol for patients with Crouzon syndrome has already been established, but there is no standard treatment strategy for adult patients with Crouzonoid appearance. The authors present clinical patients of 1-stage orthognathic and face contouring surgery to achieve functional and aesthetic improvement.One-stage surgery was performed in adult patients with Crouzonoid appearance without a history of facial surgery...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28479031/the-effect-of-early-fusion-of-the-spheno-occipital-synchondrosis-on-midface-hypoplasia-and-obstructive-sleep-apnea-in-patients-with-crouzon-syndrome
#6
Caroline Driessen, Bianca F Rijken, Priya N Doerga, Marjolein H Dremmen, Koen F Joosten, Irene M Mathijssen
INTRODUCTION: The investigators hypothesized that patients with Crouzon syndrome and premature fusion of the spheno-occipital synchondrosis (SOS) more often have, or have more severe midface hypoplasia and obstructive sleep apnea (OSA). METHODS: A prospective cohort study was performed among patients with Crouzon syndrome to analyze SOS closure, midface hypoplasia represented by the sella-nasion angle (SNA) and OSA. RESULTS: Forty patients were included in whom the OSA-prevalence was 65%...
April 8, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28474983/endoscopic-surgery-for-patients-with-syndromic-craniosynostosis-and-the-requirement-for-additional-open-surgery
#7
David S Hersh, Julie E Hoover-Fong, Natalie Beck, Amir H Dorafshar, Edward S Ahn
OBJECTIVE Recent reports have described early endoscopic suturectomy as a treatment option for patients with syndromic craniosynostosis, but such patients often require subsequent calvarial remodeling. The authors describe their experience with this patient population and seek to identify predictors of sufficiency of endoscopic surgery alone. METHODS The medical records of patients with syndromic craniosynostosis who underwent endoscopic repair were retrospectively reviewed. Demographic data, operative details, and follow-up data were collected...
July 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28468153/long-term-evaluation-of-mandibular-growth-in-children-with-fgfr2-mutations
#8
John C Kolar, Kanlaya Ditthakasem, Jeffrey A Fearon
BACKGROUND: Understanding mandibular growth in children with fibroblast growth factor receptor 2 (FGFR2) mutations is important for planning the degree of midface advancement, and for determining the best treatment for obstructive sleep apnea. Yet, relatively little is known about growth of the unoperated mandible in affected children. The purpose of this study was to evaluate mandibular growth through skeletal maturity in Apert, Crouzon, and Pfeiffer syndromes. METHODS: A retrospective chart review was performed...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28468151/tracheal-cartilaginous-sleeve-in-syndromic-craniosynostosis-an-underrecognized-source-of-significant-morbidity-and-mortality
#9
Brent B Pickrell, Jesse D Meaike, Karina T Cañadas, Binoy M Chandy, Edward P Buchanan
Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Patients with syndromic craniosynostosis who underwent direct bronchoscopy and laryngoscopy were evaluated retrospectively by pediatric otolaryngologists for the presence of TCS and associated anomalies...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28462475/use-positional-screws-for-le-fort-i-osteotomy-fixation-technical-note
#10
Rafael Linard Avelar, Maykel Sullyvan Marinho de Souza, Eduardo Costa Studart Soares, Rodrygo Nunes Tavares
In recent years, several studies related to fixation systems have been published, but few suggest any variations of the Le Fort I osteotomy technique, and the use of plates and screws placed along the canine and zygomatic pillar are common. The 20-year-old patient with Crouzon syndrome presented with severe hypoplasia of the maxillary, mandibular prognathism, and class III facial pattern. The patient underwent orthognathic surgery and high Le Fort I osteotomy with the fixation of eight positional screws. The aim of this paper is to describe a different technique for the fixation in high maxillary osteotomies, which can be used in specific cases...
May 1, 2017: Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28348808/meningitis-due-to-moraxella-nonliquefaciens-in-a-paediatric-patient-a-case-report-and-review-of-the-literature
#11
Carol Kao, Wendy Szymczak, Iona Munjal
Introduction.Moraxella nonliquefaciens is an unusual organism to be isolated from cerebral spinal fluid (CSF) and there exists only one case report of M. nonliquefaciens meningitis from a neonate. Moraxella species normally exist as part of the human upper respiratory tract flora and rarely cause invasive human disease. There are only a handful of case reports implicating the organism as a cause of endocarditis, bacteraemia, septic arthritis and endophthalmitis. Identification to the species level based on routine laboratory techniques has been challenging, with final identification often made through 16S rRNA sequencing...
February 2017: JMM Case Reports
https://www.readbyqxmd.com/read/28320694/rectus-muscle-excyclorotation-and-v-pattern-strabismus-a-quantitative-appraisal-of-clinical-relevance-in-syndromic-craniosynostosis
#12
Linda R Dagi, Sarah MacKinnon, David Zurakowski, Sanjay P Prabhu
PURPOSE: V-pattern strabismus observed with syndromic craniosynostosis has been attributed to disparate causes. We compared severity of V pattern with degree of excyclorotation of rectus muscles to appraise significance of this proposed aetiology. METHODS: 43 patients with Apert, Crouzon or Pfeiffer syndrome referred to Boston Children's Hospital Department of Ophthalmology were identified. 28 met inclusion criteria for retrospective cohort study, specifically: (1) sensorimotor measurements in minimum of seven cardinal gazes, (2) quantified fundus torsion and (3) orbital CT imaging sufficient to measure rectus muscle cyclorotation in coronal and quasicoronal planes, posteriorly (near orbital apex) and anteriorly (near pulleys)...
March 20, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28298794/anesthetic-implications-in-a-child-with-crouzon-syndrome
#13
Ajeet Kumar, Nitika Goel, Chandni Sinha, Abhishek Singh
Crouzon syndrome (CS) is an autosomal dominant genetic disorder characterized by craniofacial dysostosis. Premature fusion of skull base leads to midfacial hypoplasia, shallow orbit, mandibular prognathism, overcrowding of upper teeth, high-arched palate, and upper airway obstruction. It is important for anesthesiologists managing such patients to recognize and avoid potential airway complications. Here, we present a case of a 10-year-old child with CS posted for ptosis correction surgery. Use of peripheral nerve blocks to cut down opioid requirement, inhalational induction, and maintenance are key aspects in successful management of such cases...
January 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28181399/mild-achondroplasia-hypochondroplasia-with-acanthosis-nigricans-normal-development-and-a-p-ser348cys-fgfr3-mutation
#14
Natario L Couser, Chetna K Pande, Christie M Turcott, Elaine B Spector, Arthur S Aylsworth, Cynthia M Powell
Pathogenic allelic variants in the fibroblast growth factor receptor 3 (FGFR3) gene have been associated with a number of phenotypes including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Crouzon syndrome with acanthosis nigricans (Crouzonodermoskeletal syndrome), and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans). Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C>A (p.Ala391Glu) in the FGFR3 gene. The p.Lys650Thr pathogenic variant in FGFR3 has been linked to acanthosis nigricans without significant craniofacial or skeletal abnormalities...
February 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28141652/tracheal-cartilaginous-sleeve-in-syndromic-craniosynostosis-an-underrecognized-source-of-significant-morbidity-and-mortality
#15
Brent B Pickrell, Jesse D Meaike, Karina T Cañadas, Binoy M Chandy, Edward P Buchanan
Tracheal cartilaginous sleeve (TCS) is a rare and previously unrecognized source of morbidity and mortality in patients with certain craniosynostosis syndromes. There is a paucity of reporting on this airway anomaly, and the true incidence of TCS is largely unknown. The purpose of this study was to investigate the incidence of TCS among patients with syndromic craniosynostosis at our institution. Patients with syndromic craniosynostosis who underwent direct bronchoscopy and laryngoscopy were evaluated retrospectively by pediatric otolaryngologists for the presence of TCS and associated anomalies...
January 30, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28141641/long-term-evaluation-of-mandibular-growth-in-children-with-fgfr2-mutations
#16
John C Kolar, Kanlaya Ditthakasem, Jeffrey A Fearon
BACKGROUND: Understanding mandibular growth in children with fibroblast growth factor receptor 2 (FGFR2) mutations is important for planning the degree of midface advancement, and for determining the best treatment for obstructive sleep apnea. Yet, relatively little is known about growth of the unoperated mandible in affected children. The purpose of this study was to evaluate mandibular growth through skeletal maturity in Apert, Crouzon, and Pfeiffer syndromes. METHODS: A retrospective chart review was performed...
January 30, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28127173/crouzon-s-syndrome-a-rare-genetic-disorder
#17
Anupriya Kaushik, Hindpal Bhatia, Naresh Sharma
Crouzon's syndrome, also known as brachial arch syndrome, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early, then it may interfere with the growth of the brain. The disease is characterized by craniosynostosis, with associated dentofacial anomalies...
October 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28121883/evaluating-the-efficacy-of-monobloc-distraction-in-the-crouzon-pfeiffer-craniofacial-deformity-using-geometric-morphometrics
#18
COMPARATIVE STUDY
Richard Visser, Clifford F Ruff, Freida Angullia, Allan J T Ponniah, N U Owase Jeelani, Jonathan A Britto, Maarten J Koudstaal, David J Dunaway
BACKGROUND: Crouzon-Pfeiffer syndrome is caused by mutations predominantly in the FGFR2 gene leading to syndromic craniosynostosis and midfacial hypoplasia. Monobloc distraction aims to correct both functional and aesthetic disharmony as a result of midfacial hypoplasia. This study evaluates the corrective effects and effectiveness of monobloc distraction in Crouzon-Pfeiffer patients. METHODS: Preoperative and postoperative scans were collected from 20 Crouzon and two Pfeiffer patients aged 7 to 20 years...
February 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28091449/crouzon-syndrome-with-multiple-supernumerary-teeth
#19
G S Torun, A Akbulut
Crouzon syndrome (CS) is an autosomal dominant disorder characterized by craniofacial deformities caused by the early closure of cranial sutures. It is diagnosed by the presence of a flat sphenoid bone, protrusion of eyeballs (exophthalmos), and midfacial hypoplasia. Although hypodontia is usually present in cases with CS, supernumerary teeth are rarely seen. A 16-year-old male patient with CS was referred to our clinic. He had a high forehead, beaked nose, hypertelorism, palpebral ptosis, and asymmetrical orbits...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28069589/analysis-of-the-fgfr2-c342y-mouse-model-shows-condensation-defects-due-to-misregulation-of-sox9-expression-in-prechondrocytic-mesenchyme
#20
Emma Peskett, Samin Kumar, William Baird, Janhvi Jaiswal, Ming Li, Priyanca Patel, Jonathan A Britto, Erwin Pauws
Syndromic craniosynostosis caused by mutations in FGFR2 is characterised by developmental pathology in both endochondral and membranous skeletogenesis. Detailed phenotypic characterisation of features in the membranous calvarium, the endochondral cranial base and other structures in the axial and appendicular skeleton has not been performed at embryonic stages. We investigated bone development in the Crouzon mouse model (Fgfr2(C342Y)) at pre- and post-ossification stages to improve understanding of the underlying pathogenesis...
February 15, 2017: Biology Open
keyword
keyword
59844
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"