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Crouzons syndrome

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https://www.readbyqxmd.com/read/27891566/sudden-death-associated-with-syndromic-craniosynostosis
#1
Alžbeta Ginelliová, Daniel Farkaš, Silvia Farkašová Iannaccone, Vlasta Vyhnálková, Peter Vasovčák
In this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities. Internal examination demonstrated severe cerebral edema with tonsillar herniation, premature fusion of the cranial bone sutures, and prominent convolutional markings of the inner table of the skull. Death was due to severe cerebral edema complicating syndromic craniosynostosis...
November 28, 2016: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/27830211/clues-from-crouzon-insights-into-the-potential-role-of-growth-factors-in-the-pathogenesis-of-myelinated-retinal-nerve-fibers
#2
Giancarlo A Garcia, Jack J Tian, Supanut Apinyawasisuk, Sarah Kim, Handan Akil, Alfredo A Sadun
PURPOSE: We present a case of bilateral extensive peripapillary myelinated retinal nerve fibers (MRNF) in an individual with Crouzon syndrome, an inherited form of craniosynostosis caused by overactivation of fibroblast growth factor receptor 2. As a secondary aim, we examine the utility of optical coherence tomography (OCT) angiography for visualization of peripapillary vasculature obscured by myelination on other imaging modalities. METHODS: A 24-year-old woman with Crouzon syndrome was evaluated for suspected optic neuritis in the right eye...
December 2016: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/27803855/fgfr2-mutation-in-a-chinese-family-with-unusual-crouzon-syndrome
#3
Zi-Li Li, Xue Chen, Wen-Juan Zhuang, Wei Zhao, Ya-Ni Liu, Fang-Xia Zhang, Ruo-Shui Ha, Jin-Hua Wu, Chen Zhao, Xun-Lun Sheng
AIM: To describe the clinical characteristics with genetic lesions in a Chinese family with Crouzon syndrome. METHODS: All five patients from this family were included and received comprehensive ophthalmic and systemic examinations. Direct sequencing of the FGFR2 gene was employed for mutation identification. Crystal structure analysis was applied to analyze the structural changes associated with the substitution. RESULTS: All patients presented typical Crouzon features, including short stature, craniosynostosis, mandibular prognathism, shallow orbits with proptosis, and exotropia...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/27740959/surgical-strategies-for-soft-tissue-management-in-hypertelorbitism
#4
Cassio Eduardo Raposo-Amaral, Rafael Denadai, Enrico Ghizoni, Cesar Augusto Raposo-Amaral
BACKGROUND: Although craniofacial bone correction is the essential step in hypertelorbitism correction, the final result depends on the management of soft tissue deformities. The purpose of this study was to review our surgical strategies for soft tissue reconstruction in hypertelorbitism correction. METHODS: A retrospective study was performed of consecutive patients with hypertelorbitism, undergoing hypertelorbitism correction between 2007 and 2014. All aspects related to the craniofacial surgical procedures (number and type of procedures, outcomes, and complications) were verified through medical records, clinical photographs, and interviews with all patients...
October 6, 2016: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/27692993/-craniofacial-strategy-for-syndromic-craniosynostosis
#5
E Arnaud, G Paternoster, S James, M-P Morisseau-Durand, V Couloigner, P Diner, C Tomat, V Viot-Blanc, B Fauroux, V Cormier-Daire, G Baujat, M Robert, A Picard, S Antunez, R Khonsari, L Pamphile-Tabuteau, C Legros, M Zerah, P Meyer
The complexity of treatment of faciocraniosynostosis justifies the treatment in a reference center for rare diseases. The growth disturbances in the skull and face being variable according to the type of mutation in the FGFr (Crouzon, Pfeiffer, Apert), the strategy is adapted to the phenotype according to the following principles: posterior expansion with or without distraction around 6 months to limit the descent of the cerebellum tonsils and to prevent the turricephalic development; fronto-facial monobloc advancement with internal distraction around the age of 18 months in case of severe exorbitism or breathing impairment...
October 2016: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/27683237/mutation-analysis-of-fgfr1-3-in-11-japanese-patients-with-syndromic-craniosynostoses
#6
Akira Ohishi, Gen Nishimura, Fumiko Kato, Hiroyuki Ono, Kaori Maruwaka, Mako Ago, Hiroshi Suzumura, Etsuko Hirose, Yuki Uchida, Maki Fukami, Tsutomu Ogata
Syndromic craniosynostoses usually occur as single gene disorders. In this study, we analyzed FGFR1-3 genes in four patients with Crouzon syndrome (CS), four patients with Pfeiffer syndrome type 2 (PS-2), one patient with Jackson-Weiss syndrome (JWS), and two patients (sisters) with Muenke syndrome (MS). FGFR2 and FGFR3 mutations were identified in 10 of the 11 patients. Notably, we found a novel FGFR2 p.Asn549Thr mutation in a patient with CS, and a novel FGFR2 p.Ser347Cys mutation in a patient with JWS (thus, this patient was turned out to have an FGFR2-related PS-variant)...
September 28, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27639780/fronto-facial-advancement-and-bipartition-in-crouzon-pfeiffer-and-apert-syndromes-impact-of-fronto-facial-surgery-upon-orbital-and-airway-parameters-in-fgfr2-syndromes
#7
Roman H Khonsari, Benjamin Way, Johan Nysjö, Guillaume A Odri, Raphaël Olszewski, Robert D Evans, David J Dunaway, Ingela Nyström, Jonathan A Britto
A major concern in FGFR2 craniofaciosynostosis is oculo-orbital disproportion, such that orbital malformation provides poor accommodation and support for the orbital contents and peri-orbita, leading to insufficient eyelid closure, corneal exposure and eventually to functional visual impairment. Fronto-facial monobloc osteotomy followed by distraction osteogenesis aims to correct midfacial growth deficiencies in Crouzon-Pfeiffer syndrome patients. Fronto-facial bipartition osteotomy followed by distraction is a procedure of choice in Apert syndrome patients...
August 21, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27622416/craniosynostosis-prenatal-diagnosis-by-2d-3d-ultrasound-magnetic-resonance-imaging-and-computed-tomography
#8
REVIEW
Talita Micheletti Helfer, Alberto Borges Peixoto, Gabriele Tonni, Edward Araujo Júnior
Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes...
September 2016: Medical Ultrasonography
https://www.readbyqxmd.com/read/27563623/crouzon-syndrome-virtual-planning-of-surgical-treatment-by-application-of-internal-distractors
#9
Chingiz Rahimov, Ruslan Asadov, Gunel Hajiyeva, Nazim Verdiyev, Zaur Novruzov, Ismayil Farzaliyev
Crouzon syndrome is one of the frequent pathologies within craniosynostosis syndrome. Current progress in computers and biotechnologies allows improving surgical approach and forecasting final result of reconstruction as well. We present a case of successful surgical treatment of Crouzon syndrome, done by application of virtual planning allowing determining "monobloc" features, type of reconstruction and distraction protocol as well. A 20-year-old female had presented with craniofacial deformity. Clinical and radiological investigation revealed Crouzon syndrome...
January 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/27563607/lateral-canthal-repositioning-in-syndromic-antimongoloid-slant
#10
S M Balaji
INTRODUCTION: To report a single center's experience in correcting antimongoloid slant in Asian eyes using a minimally invasive approach. METHODS: Retrospective analysis of patients undergoing correction for antimongoloid slant at author's center, from 2007 to 2013 formed the study group. Concomitant surgical procedures were recorded. Pre- and post-operative photographs at the longest follow-up visit were analyzed and graded for functional and cosmetic outcomes...
January 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/27562283/-craniosynostosis-and-strabismus
#11
A K Wang, X L Kang
Craniosynostosis(CS), the premature fusion of cranial sutures leading to an abnormal shape and precocious maturity of skull, is classified into Non-syndromic Craniosynostosis (NSC) and Syndromic Craniosynostoses(SC).NCS only has different abnormality of skull according to which cranial suture is involved while extra malformation of midface and limbs present in SCS. Common SCS contains Crouzon Syndrome, Apert Syndrome, Pfeiffer Sydrome, and etc. The clinical manifestation of CS includes malformation of skull, intracranial hypertension, brain hernia, developmental disorder of cerebral function, strabismus, and etc, while SCS has more complex manifestation...
August 2016: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/27430617/molecular-analysis-of-fgfr-2-and-associated-clinical-observations-in-two-chinese-families-with-crouzon-syndrome
#12
Ying Lin, Hongbin Gao, Siming Ai, Jacob V P Eswarakumar, Tao Li, Bingqian Liu, Hongye Jiang, Yuhua Liu, Xialin Liu, Yonghao Li, Yao Ni, Jiangna Chen, Zhuoling Lin, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Lin Lu, Yizhi Liu
Crouzon syndrome, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor 2 (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak‑like nose. The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features...
September 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27424047/individualized-therapy-for-treating-obstructive-sleep-apnea-in-pediatric-crouzon-syndrome-patients
#13
Wenwen Yu, Meng Wang, Kan Yao, Ming Cai, Hongxia Sun, Liyan Lu, Min Zhu, Xiaofeng Lu
PURPOSE: Pediatric patients with Crouzon syndrome have great possibilities of suffering from obstructive sleep apnea (OSA), which is mainly due to midfacial hypoplasia and facial deformities. For most patients, a multidisciplinary and sequential treatment plan is necessary to make for Crouzon syndrome often has different phenotypes of different severity in OSA and facial deformities. Typical patients were selected in this paper to illustrate the necessity of individualized therapy for treating OSA...
September 2016: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/27418250/the-ophthalmic-sequelae-of-pfeiffer-syndrome-and-the-long-term-visual-outcomes-after-craniofacial-surgery
#14
Neharika Sharma, Timothy Greenwell, Michael Hammerton, David J David, Dinesh Selva, Peter J Anderson
BACKGROUND: Pfeiffer syndrome is a rare, genetic condition characterized by craniosynostosis and midface hypoplasia, with resultant ophthalmic sequelae. The gold standard of treatment is fronto-orbital advancement. We analyzed a large database of Pfeiffer syndrome patients to report the rate of ophthalmic sequelae and the long-term visual outcomes after craniofacial surgery and to compare Pfeiffer syndrome to other craniosynostosis syndromes. METHODS: The medical records of Pfeiffer syndrome patients examined between 1988 and 2010 were examined retrospectively...
August 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27391494/the-phenotypes-of-spheno-occipital-synchondrosis-in-patients-with-crouzon-syndrome
#15
Jinchao Li, Shouhong Li
OBJECTIVE: To characterize the phenotypes of spheno-occipital synchondrosis (SOS) in Chinese patients with Crouzon syndrome. METHODS: Twelve patients with Crouzon syndrome were included in this retrospective study, and were divided into 2 groups. The first group included 5 patients (5-7-year old), whereas 7 patients were included in the second group (8-11-year old). Two age- and sex-matched control groups were constituted for comparison. All patients and controls were underwent preoperative computed tomography examinations of the craniofacial area, and the three-dimensional skull models, sagittal, and axial images were reconstructed...
July 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27323706/ectrodactyly-and-lethal-pulmonary-acinar-dysplasia-associated-with-homozygous-fgfr2-mutations-identified-by-exome-sequencing
#16
Christopher P Barnett, Nathalie J Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K Lee, Damien L Bruno, Jill Lipsett, Andrew J McPhee, Andreas W Schreiber, Jinghua Feng, Christopher N Hahn, Hamish S Scott
Ectrodactyly/split hand-foot malformation is genetically heterogeneous with more than 100 syndromic associations. Acinar dysplasia is a rare congenital lung lesion of unknown etiology, which is frequently lethal postnatally. To date, there have been no reports of combinations of these two phenotypes. Here, we present an infant from a consanguineous union with both ectrodactyly and autopsy confirmed acinar dysplasia. SNP array and whole-exome sequencing analyses of the affected infant identified a novel homozygous Fibroblast Growth Factor Receptor 2 (FGFR2) missense mutation (p...
September 2016: Human Mutation
https://www.readbyqxmd.com/read/27250821/syndromes-with-supernumerary-teeth
#17
Mark Lubinsky, Piranit Nik Kantaputra
While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27240504/prevention-and-management-of-hearing-loss-in-syndromic-craniosynostosis-a-case-series
#18
Elisa Biamino, Andrea Canale, Michelangelo Lacilla, Annalisa Marinosci, Federico Dagna, Lorenzo Genitori, Paola Peretta, Margherita Silengo, Roberto Albera, Giovanni Battista Ferrero
OBJECTIVE: To assess the audiological profile in a cohort of children affected by syndromic craniosynostosis. METHODS: Eleven children with Apert syndrome (n=4), Saethre-Chotzen syndrome (n=3), Muenke syndrome (n=2), Crouzon syndrome (n=1) and Pfeiffer syndrome type 1 (n=1) were submitted to a complete audiologic evaluation including otoscopy, pure-tone audiometry, tympanometry and acoustic reflex testing, ABR, otoacustic emissions, temporal bone High Resolution CT (HRCT) scan...
June 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27226847/genetic-syndromes-associated-with-craniosynostosis
#19
REVIEW
Jung Min Ko
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures...
May 2016: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/27200233/30-year-international-pediatric-craniofacial-surgery-partnership-evolution-from-the-third-world-forward
#20
Jordan W Swanson, Jan Skirpan, Beata Stanek, Maciej Kowalczyk, Scott P Bartlett
BACKGROUND: Craniofacial diseases constitute an important component of the surgical disease burden in low- and middle-income countries. The consideration to introduce craniofacial surgery into such settings poses different questions, risks, and challenges compared with cleft or other forms of plastic surgery. We report the evolution, innovations, and challenges of a 30-year international craniofacial surgery partnership. METHODS: We retrospectively report a partnership between surgeons at the Uniwersytecki Szpital Dzieciecy in Krakow, Poland, and a North American craniofacial surgeon...
April 2016: Plastic and Reconstructive Surgery. Global Open
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