keyword
MENU ▼
Read by QxMD icon Read
search

Crouzon

keyword
https://www.readbyqxmd.com/read/29351036/crouzon-with-acanthosis-nigricans-and-odontogenic-tumors-a-rare-form-of-syndromic-craniosynostosis
#1
Wen Xu, Donna M McDonald-McGinn, Alexandra J Melchiorre, Elaine H Zackai, Scott P Bartlett, Jesse A Taylor
Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. Diagnosis through the use of genetic mutational analysis is critical, as it alerts the surgeon to the need for careful screening for jaw tumors so that timely treatment in the form of curettage or segmental resection can be provided...
February 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29290519/reduced-intercarotid-artery-distance-in-syndromic-and-isolated-brachycephaly
#2
Reza Assadsangabi, Mehrdad Hajmomenian, Seyed Ali Nabavizadeh, James Eric Schmitt, Arastoo Vossough
INTRODUCTION: The morphology of the skull base can be altered in craniosynostoses. The objective of this study is to evaluate the reduced intercarotid artery distance in the lacerum segment in patients with syndromic and isolated brachycephaly. MATERIALS AND METHODS: The distances between the inner walls of the carotid canal at the lacerum segment were measured on high-resolution CT scans in children with Crouzon (25), Pfeiffer (21), Apert (26), Saethre-Chotzen (7) syndromes, isolated bicoronal synostosis (9), and compared to an age-matched control group (30)...
October 9, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29280899/surgical-correction-of-severe-kyphoscoliosis-associated-with-crouzon-syndrome-with-serious-postoperative-respiratory-problems-a-case-report
#3
Taro Umezu, Nobuyuki Fujita, Mitsuru Yagi, Osahiko Tsuji, Narihito Nagoshi, Ken Ishii, Masaya Nakamura, Morio Matsumoto, Kota Watanabe
CASE: A 12-year-old girl with Crouzon syndrome presented to our hospital with scoliosis (114°) and kyphosis from T8 to T12 (138°). After she had been in halo-gravity traction for 2 weeks, we performed posterior correction and fusion surgery from T3 to L3, with a posterior vertebral column resection of T10. She experienced postoperative respiratory failure and remained on a ventilator for 4 weeks. With rehabilitation, the respiratory function had recovered by postoperative week 8. At the 2-year follow-up, there was no loss of correction or any other complication...
December 27, 2017: JBJS Case Connector
https://www.readbyqxmd.com/read/29280877/choanal-atresia-and-craniosynostosis-development-and-disease
#4
Kate M Lesciotto, Yann Heuzé, Ethylin Wang Jabs, Joseph M Bernstein, Joan T Richtsmeier
A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis...
January 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29262456/-crouzon-syndrome-with-cerebrospinal-rhinorrhea-report-of-two-cases
#5
H Chen, M J Wang, B Zhou
No abstract text is available yet for this article.
December 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/29236889/syndromic-craniosynostosis-neuropsycholinguistic-abilities-and-imaging-analysis-of-the-central-nervous-system
#6
Luciana Paula Maximino, Luis Gustavo Ducati, Dagma Venturini Marques Abramides, Camila de Castro Corrêa, Patrícia Fernandes Garcia, Adriano Yacubian Fernandes
OBJECTIVE: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. METHODS: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test...
December 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/29230096/fibroblast-growth-factor-receptor-2-fgfr2-mutation-related-syndromic-craniosynostosis
#7
REVIEW
Saïd C Azoury, Sashank Reddy, Vivek Shukla, Chu-Xia Deng
Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various craniosynostotic syndromes including Crouzon, Apert, Pfeiffer, Antley-Bixler, Beare-Stevenson cutis gyrata, Jackson-Weiss, Bent Bone Dysplasia, and Seathre-Chotzen-like syndromes...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29224414/using-photovoice-to-explore-quality-of-life-factors-of-adults-with-crouzon-syndrome
#8
Kelly J Wheeler, Jody O Early
In the United States, one in 60,000 adults live with Crouzon Syndrome (CS) and facial malformations. Phenomenological studies about their lived experiences and quality of life are lacking. The purpose of this participatory action research study was to gain a richer understanding of the perceived biopsychosocial and socioecological factors that impact quality of life for adults living with CS using Photovoice. Another aim was to develop a conceptual framework of quality of life for those experiencing CS to enhance tailored health education and services...
December 1, 2017: Qualitative Health Research
https://www.readbyqxmd.com/read/29223639/extensive-phenotyping-of-the-orofacial-and-dental-complex-in-crouzon-syndrome
#9
Alexander Khominsky, Robin Yong, Sarbin Ranjitkar, Grant Townsend, Peter J Anderson
OBJECTIVES: Fibroblast growth factor receptor 2 (FGFR2) C342Y/+ mutation is a known cause of Crouzon syndrome that is characterised by craniosynostosis and midfacial hypoplasia. Our aim was to conduct extensive phenotyping of the maxillary, mandibular and dental morphology associated with this mutation. MATERIALS AND METHODS: Morphometric data were obtained from 40 mice, representing two genotypes (Crouzon and wild-type) and two sexes (males and females) (n=10 in each group)...
October 27, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/29168926/three-dimensional-imaging-of-soft-and-hard-facial-tissues-in-patients-with-craniofacial-syndromes-a-systematic-review-of-methodological-quality
#10
Arianne Lewyllie, Maria Cadenas De Llano-Pérula, Anna Verdonck, Guy Willems
OBJECTIVES: To systematically review the xmethodological quality of three-dimensional (3D) imaging studies of patients with craniofacial syndromes and to propose recommendations for future research. METHODS: PubMed, Embase and Cochrane databases as well as Grey literature were electronically searched. Inclusion criteria were patients with genetic syndromes with craniofacial manifestations and 3D imaging of facial soft and/or hard tissues. Exclusion criteria consisted of non-syndromic conditions or conditions due to environmental causes, injury or trauma, facial soft and hard tissues not included in the image analysis, case reports, reviews, opinion articles...
November 23, 2017: Dento Maxillo Facial Radiology
https://www.readbyqxmd.com/read/29109840/identical-twins-with-crouzon-syndrome-eight-year-follow-up-genetic-considerations-and-operative-management
#11
Mark S Lloyd, Jeffrey G Trost, David Y Khechoyan, Larry H Hollier, Edward P Buchanan
A case report of monozygotic (MZ) twins with Crouzon syndrome was previously published to highlight variables in clinical presentation. The postnatal and epigenetic causes for this variation are not well understood. An 8-year follow-up discusses their pertinent clinic course with consideration of genetic and nongenetic variables. The phenotypic and symptomatic obstacles encountered since their initial assessment are reviewed, and the use of three-dimensional Medical Modeling (Golden, CO) as a preoperative planning strategy is addressed...
December 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/29068064/familial-acanthosis-nigricans-with-p-k650t-fgfr3-mutation
#12
Kensuke Fukuchi, Kazuki Tatsuno, Kayo Matsushita, Akiharu Kubo, Taisuke Ito, Yoshiki Tokura
Acanthosis nigricans (AN) is a pigmentary skin disorder, which may present in association with clinical disorders such as obesity and malignancy. Occasionally, this unique skin manifestation is seen in alliance with several skeletal disorders, such Crouzon syndrome, achondroplasia and hypochondroplasia (HCH). These orthopedic disorders are known to have genetic changes in FGFR3. Recently, AN was reported in HCH with p.K650T mutation in FGFR3, and to date, there are only three reports, comprising 18 cases, describing AN harboring this specific gene mutation...
October 25, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/29065044/osteogenesis-of-crouzon-mutated-cells-in-a-murine-model
#13
Andre Alcon, Philipp Metzler, Jacob Eswarakumar, Alexander T Wilson, Derek M Steinbacher
Crouzon syndrome is an autosomal-dominant congenital disease due to a mutation in the fibroblast growth factor receptor 2 protein. The purpose of this study is to evaluate wound-healing potential of Crouzon osteoblasts and adipose-derived stem cells (ADSCs) in a murine model. Parietal skull defects were created in Crouzon and mature wild-type (WT) CD-1 mice. One group of WT and Crouzon mice were left untreated. Another group was transplanted with both WT and Crouzon adipose-derived stem cells. Additional groups compared the use of a fibrin glue scaffold and periosteum removal...
October 23, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29062650/corrected-cephalometric-analysis-to-determine-the-distance-and-vector-of-distraction-osteogenesis-for-syndromic-craniosynostosis
#14
Shinji Kobayashi, Toshihiko Fukawa, Takashi Hirakawa, Toshihiko Satake, Jiro Maegawa
BACKGROUND: The purpose of this study was to confirm the utility of a corrected cephalometric analysis to facilitate the planning of distraction osteogenesis with Le Fort III osteotomy for syndromic craniosynostosis. METHODS: This prospective study involved 4 male and 2 female patients (mean patient age, 8 years 9 months; age range, 4 years 6 months to 13 years 2 months) with Crouzon syndrome who were treated with Le Fort III maxillary distraction using our previously described system of analysis of a corrected cephalogram and who underwent clinical follow-up...
September 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29036029/-anterior-skull-base-and-pericranial-flap-ossification-after-frontofacial-monobloc-advancement
#15
Anne Morice, Giovanna Paternoster, Agnès Ostertag, Syril James, Martine Cohen-Solal, Roman H Khonsari, Eric Arnaud
BACKGROUND: Frontofacial monobloc advancement (FFMBA) creates a communication between the anterior cranial fossa and nasal cavities. To tackle this issue, trans-orbital pericranial pedicled flaps (PF) are routinely performed in our center. This study aimed to assess the post-operative ossification of the anterior skull base and PF following FFMBA, and to identify factors influencing this ossification. METHODS: Measurements of the skull base only (SB) and of the ossified PF together with the SB (SB-OPF) were performed on CT scans at the naso-frontal (NF) and the naso-ethmoïdo-frontal (NEF) junctions...
October 12, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29024761/pattern-of-closure-of-skull-base-synchondroses-in-crouzon-syndrome
#16
Guillaume Coll, Laurent Sakka, Céline Botella, Nathalie Pham-Dang, Corine Collet, Michel Zerah, Eric Arnaud, Federico Di Rocco
BACKGROUND: The age of closure of skull base synchondroses has never been analyzed in a homogenous population of children with Crouzon syndrome. METHOD: A retrospective case-control study was performed on 30 Crouzon children (17M, 13F) aged 1 month to 12.48 years with Fibroblast Growth Factor Receptor type 2 mutation. Eleven synchondroses were analyzed on millimetric computed tomodensitometry slices before surgery. Syndromic patients were compared to a series of 235 healthy children previously published...
October 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29019756/imaging-of-skeletal-disorders-caused-by-fibroblast-growth-factor-receptor-gene-mutations
#17
Kiran M Sargar, Achint K Singh, Simon C Kao
Fibroblast growth factors and fibroblast growth factor receptors (FGFRs) play important roles in human axial and craniofacial skeletal development. FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. Many of these disorders are relatively common in the pediatric population, and diagnosis is often challenging. These skeletal disorders can be classified based on which FGFR is affected...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28974353/growth-curves-for-intracranial-volume-in-normal-asian-children-fortify-management-of-craniosynostosis
#18
Hideaki Kamochi, Ataru Sunaga, Daekwan Chi, Rintaro Asahi, Shiho Nakagawa, Masanori Mori, Hirokazu Uda, Shunji Sarukawa, Yasushi Sugawara, Kotaro Yoshimura
BACKGROUND: Although the charting of normal intracranial volume (ICV) is fundamental for managing craniosynostosis, Asian norms in this regard are unknown. The purpose of this study was to establish a growth curve for ICVs in a large series of normal Asian children, providing reference values to guide corrective surgery. METHODS: A total of 124 normal children (male, 63; female, 61) and 41 children diagnosed with craniosynostoses were analyzed. Patients aged 0-8 years presenting to the emergency room and subjected to computed tomography (CT) for head trauma served as the reference cohort...
September 21, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28904587/complete-resolution-of-papilledema-in-syndromic-craniosynostosis-with-posterior-cranial-vault-distraction
#19
Melissa LoPresti, Edward P Buchanan, Veeral Shah, Caroline M Hadley, Laura A Monson, Sandi Lam
We report a case of surgical management of Crouzon syndrome with multisuture craniosynostosis presenting with increased intracranial pressure (ICP) manifesting with chronic papilledema without ventriculomegaly. A 12-month-old boy had complete resolution of papilledema after posterior cranial vault distraction followed by staged fronto-orbital advancement. Expansion of the cranial vault with posterior distraction osteogenesis posed an elegant treatment, obviating ventriculoperitoneal shunt placement for cerebrospinal fluid (CSF) diversion...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28901406/fgfr2-mutations-and-associated-clinical-observations-in-two-chinese-patients-with-crouzon-syndrome
#20
Ying Lin, Hongbin Gao, Siming Ai, Jacob V P Eswarakumar, Yi Zhu, Chuan Chen, Tao Li, Bingqian Liu, Hongye Jiang, Yuhua Liu, Yonghao Li, Qingxiu Wu, Haichun Li, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Lin Lu
The aim of the present study was to identify mutations in the fibroblast growth factor receptor 2 (FGFR2) gene in patients with Crouzon syndrome and characterize the associated clinical features. A total of two Chinese patients diagnosed with Crouzon syndrome underwent complete examinations, including best‑corrected visual acuity, slit‑lamp, examination, fundus examination, optical coherence tomography and computed tomography of the skull. Genomic DNA was extracted from peripheral blood samples collected from the patients, as well as their family members and 200 unrelated control subjects from the same population...
November 2017: Molecular Medicine Reports
keyword
keyword
65188
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"