keyword
MENU ▼
Read by QxMD icon Read
search

Crouzons syndrome

keyword
https://www.readbyqxmd.com/read/28091449/crouzon-syndrome-with-multiple-supernumerary-teeth
#1
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-fgfr2c342y-mouse-model-shows-condensation-defects-due-to-misregulation-of-sox9-expression-in-prechondrocytic-mesenchyme
#2
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...
January 9, 2017: Biology Open
https://www.readbyqxmd.com/read/28060197/identical-twins-discordant-for-metopic-craniosynostosis-evidence-of-epigenetic-influences
#3
Suresh N Magge, Kendall Snyder, Aparna Sajja, Tiffani A DeFreitas, Sean E Hofherr, Richard E Broth, Robert F Keating, Gary F Rogers
Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. The genetic causes and molecular basis of these disorders have greatly expanded over the last 2 decades, with numerous causative and contributory mutations having been identified. The role of fibroblast growth factor receptor (FGFR) mutations in the etiology of certain eponymous forms of craniosynostosis is now well elucidated; the most common syndromes associated with craniosynostosis are Pfeifer (FGFR1, FGFR2), Apert (FGFR2), Crouzon (FGFR2), Saethre-Chotzen (TWIST1), Jackson-Weiss (FGFR2), Greig (GL13), and Muenke (FGFR3) syndromes...
January 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28060091/midface-distraction-osteogenesis-using-a-modified-external-device-with-elastic-distraction-for-crouzon-syndrome
#4
Haizhou Tong, Lei Liu, Xiaojun Tang, Tao Song, Ningbei Yin, Zhiyong Zhang, Zhenmin Zhao
PURPOSE: Midface distraction osteogenesis has been popularized for the correction of midface hypoplasia associated with exophthalmos and obstructive sleep apnea in patients with Crouzon syndrome. The purpose of this study was to present the method of utilizing the modified external device with elastic distraction for the midface advancement in Crouzon syndrome, and the clinical outcomes and skeletal changes were analyzed. METHODS: Five consecutive patients with Crouzon syndrome underwent Le Fort III osteotomy with midface advancement using a modified external device with elastic distraction...
January 5, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27891566/sudden-death-associated-with-syndromic-craniosynostosis
#5
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...
December 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
#6
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
#7
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
#8
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
#9
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
#10
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)...
January 2017: 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
#11
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...
October 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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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"