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Crouzons syndrome

Despina Apostolopoulou, Olga S Kaxira, Angeliki Hatzaki, Kanaris P Panagopoulos, Konstantinos Alexandrou, Alexander Stratoudakis, Panagoula Kollia, Vassiliki Aleporou
INTRODUCTION: Craniosynostosis, the premature fusion of cranial sutures, is usually divided into 2 major categories: syndromic and nonsyndromic. Mutations in the FGFR1, FGFR2, FGFR3, TWIST1, and EFNB1 genes cause the common craniosynostosis syndromes Muenke, Crouzon and Crouzon with acanthosis nigricans, Apert, Pfeiffer, Saethre-Chotzen, and Craniofrontonasal. Overlapping features among craniosynostosis syndromes, phenotypic heterogeneity even within the same syndrome, especially in the case of Muenke syndrome, and inadequate clinical evaluation can lead to misdiagnosis, which molecular testing can help clarify...
January 1, 2018: Cleft Palate-craniofacial Journal
Abdulaziz Anazi Alshamrani, Sami Al-Shahwan
BACKGROUND: Crouzon syndrome is the most common form of craniosynostosis, and mutations in the fibroblast growth factor receptor 2 and 3 (FGFR2 and FGFR3) genes are implicated in its pathogenesis. OBSERVATION: A 10-year-old female patient with Crouzon syndrome and congenital glaucoma treated with trabeculectomy and ocular hypotensive medications was examined. The patient had proptosis, exposure keratopathy, megalocornea, thin central corneal thickness, a shallow anterior chamber, mild anterior subcapsular cataract, and a cup-to-disc ratio of 0...
March 19, 2018: Journal of Glaucoma
Jose María Narro-Donate, Paddy Méndez-Román, Antonio Huete-Allut, Jose Alberto Escribano-Mesa, Mario Gomar-Alba, Ascensión Contreras-Jiménez, Francisco Pedrero-García, Jose Masegosa-González
BACKGROUND: The polymalformative syndromes and craniofacial anomalies association is a well-known phenomenon in patients with Crouzon's, Pfeiffer, Apert or Muenke disease. Recently, other less frequent pathologies, such as Alagille syndrome, are showing an association with alterations in the development of cranial sutures resulting in serious cosmetic defects and neurological disorders. CASE DESCRIPTION: The authors report an exceptional case of a 30-month-old girl, nephroblastoma survivor, diagnosed with Alagille syndrome who is referred to our department with progressive anterior plagiocephaly and premature left coronal suture closure associated with a large compensating right bossing...
March 9, 2018: World Neurosurgery
Malke Asaad, Samita Goyal, Kristen A Klement, Arlen D Denny
Crouzon syndrome (CS) is one of the craniosynostosis syndromes that leads to early fusion of cranial sutures and increased intracranial pressure. Intracranial hypertension is a serious complication that may lead to vision loss and cognitive impairment. Early detection and management are necessary to prevent complications. The authors present a patient with CS who underwent posterior cranial vault reconstruction with internal distraction after multiple episodes of headache and papilledema. The patient was unaware of any loss of color vision before the surgery; however, he noted an improvement in his color vision after the surgery...
February 26, 2018: Journal of Craniofacial Surgery
José Thiers Carneiro Júnior, Paulo Hemerson de Moraes, Douglas Voss de Oliveira, Nayara Cristina Monteiro Carneiro
Patients with considerable maxillomandibular anteroposterior discrepancies and maxillary hypoplasia require corrective treatment through orthognathic surgery. However, in the treatment of severe maxillary retrognathism, it is necessary to reconstruct areas of bone deficiency through grafting techniques in addition to maxillary advancement using only the Le Fort I osteotomy. Treatment in these patients is more challenging and requires high surgical predictability. Alloplastic materials often have been used for the reconstruction of poor bone contours...
January 31, 2018: Journal of Oral and Maxillofacial Surgery
Khai Luen Koh, Ali Zain
: Open cranial vault remodeling techniques require rigid fixation with hardware such as plates and screws; however, complications can occur. The purpose of this study was to assess the surgical outcome after open reconstruction for craniosynostosis with less rigid fixation using nonabsorbable suture. METHODS: Retrospective review of patients who underwent open craniofacial reconstruction for craniosynostosis at the Hospital Kuala Lumpur between January 2011 and December 2016 were performed...
February 12, 2018: Journal of Craniofacial Surgery
Anna Kutkowska-Kaźmierczak, Monika Gos, Ewa Obersztyn
Craniosynostosis (occurrence: 1/2500 live births) is a result of premature fusion of cranial sutures, leading to alterations of the pattern of cranial growth, resulting in abnormal shape of the head and dysmorphic facial features. In approximately 85% of cases, the disease is isolated and nonsyndromic and mainly involves only one suture. Syndromic craniosynostoses such as Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes not only affect multiple sutures, but are also associated with the presence of additional clinical symptoms, including hand and feet malformations, skeletal and cardiac defects, developmental delay, and others...
February 1, 2018: Journal of Applied Genetics
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
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
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
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
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
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
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
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...
February 2018: Qualitative Health Research
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)...
February 2018: Archives of Oral Biology
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
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
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
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
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