keyword
MENU ▼
Read by QxMD icon Read
search

Apert

keyword
https://www.readbyqxmd.com/read/29753329/a-37-year-old-nigerian-woman-with-apert-syndrome-medical-and-psychosocial-perspectives-a-case-report
#1
M A Kana, T S Baduku, H Bello-Manga, A S Baduku
BACKGROUND: Apert syndrome is a rare genetic disease that presents a diagnostic dilemma because of its similarity with other craniosynostosis syndromes. Currently, there is paucity of reports about adult patients in African medical literature. Therefore, this case report highlights medical and psychosocial problems associated with the disease in an adult woman who is resident in a resource-constrained setting. CASE PRESENTATION: Our patient is a 37-year-old African woman...
May 13, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29728184/an-audiological-evaluation-of-syndromic-and-non-syndromic-craniosynostosis-in-pre-school-going-children
#2
Liang Chye Goh, Ali Azman, Hufaidah Binti Konting Siti, Wee Vien Khoo, Premala A/P Muthukumarasamy, Meow Keong Thong, Zulkiflee Abu Bakar, Anura Michelle Manuel
OBJECTIVE: To study the audiological outcome and early screening of pre-school going children with craniosynostosis under follow-up at the University of Malaya Medical Center(UMMC), Kuala Lumpur, Malaysia over a 10 year period. METHODS: A retrospective descriptive cohort study on the audiological findings detected during the first hearing assessment done on a child with craniosynostosis using otoacoustic emissions, pure tone audiometry or auditory brainstem response examination...
June 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29707444/applications-of-computer-technology-in-complex-craniofacial-reconstruction
#3
Kristopher M Day, Kyle S Gabrick, Larry A Sargent
Background: To demonstrate our use of advanced 3-dimensional (3D) computer technology in the analysis, virtual surgical planning (VSP), 3D modeling (3DM), and treatment of complex congenital and acquired craniofacial deformities. Methods: We present a series of craniofacial defects treated at a tertiary craniofacial referral center utilizing state-of-the-art 3D computer technology. All patients treated at our center using computer-assisted VSP, prefabricated custom-designed 3DMs, and/or 3D printed custom implants (3DPCI) in the reconstruction of craniofacial defects were included in this analysis...
March 2018: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29688857/less-invasive-treatment-of-sleep-disordered-breathing-in-children-with-syndromic-craniosynostosis
#4
Silvia Müller-Hagedorn, Cornelia Wiechers, Jörg Arand, Wolfgang Buchenau, Margit Bacher, Michael Krimmel, Siegmar Reinert, Christian F Poets
BACKGROUND: Infants and children with syndromic craniosynostosis (SCS), such as Apert-, Crouzon- or Pfeiffer syndrome, are prone to sleep disordered breathing (SDB) including obstructive sleep apnea and upper airway resistance syndrome (OSAS, UARS), potentially leading to tracheostomy. We modified the Tübingen Palatal Plate (TPP), an oral appliance with a velar extension effectively treating airway obstruction in Robin sequence, by attaching a tube to its velar extension to bridge the narrow pharyngeal airway in SCS patients...
April 23, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29668474/craniosynostosis-acrocephalosyndactyly-apert-syndrome-diagnosed-in-a-newborn
#5
Orhideja Stomnaroska, Dragan Danilovski, Sanja Ivanovska
We report a 10 days old newborn with brachycephaly, midfacial hypoplasia, syndactyly and broad distal phalanx of thumb and big toe. At the 20th gestational weeks an enlargement of the left cerebral ventricle and malformation of the fingers of the hands and toes were noticed on a regular ultrasound examination. The aforementioned malformations were observed at birth and at the age of 11 months. The large fontal was closed; the small one was palpable at the tip of the finger. Brachycephaly was evident with high full forehead, flat occiput, and irregular craniosynostosis especially at the coronal suture...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29561715/genetic-analysis-of-syndromic-and-nonsyndromic-patients-with-craniosynostosis-identifies-novel-mutations-in-the-twist1-and-efnb1-genes
#6
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
https://www.readbyqxmd.com/read/29530693/anterior-unilateral-plagiocephaly-treatment-in-patient-with-alagille-syndrome-a-case-report
#7
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
https://www.readbyqxmd.com/read/29483804/two-patients-with-apert-syndrome-with-different-mutations-the-importance-of-early-diagnosis
#8
Esra Işık, Tahir Atik, Hüseyin Onay, Ferda Özkınay
Apert syndrome is an autosomal dominant craniosynostosis syndrome accompanied by limb anomalies. The fibroblast growth factor receptor 2 ( FGFR2 ) gene is responsible for the disease and two different heterozygous mutations, p.Pro253Arg and p.Ser252Trp, have been defined as responsible in the majority of cases of Apert syndrome. In this case report, two patients with Apert syndrome with two different FGFR2 gene mutations are presented. Case-1, a 4-month-old boy with craniosynostosis and syndactyly was referred to pediatric genetic clinic...
December 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29481405/the-role-of-bipartition-distraction-in-the-treatment-of-apert-syndrome
#9
Graeme E Glass, Clifford F Ruff, Genevieve A J C Crombag, Melanie H A S Verdoorn, Martin Koudstaal, Freida Anguilla, Richard Hayward, Jonathan A Britto, Owase Jeelani, David J Dunaway
Apert syndrome is characterized by hypertelorism, a negative canthal axis, and central midfacial hypoplasia, resulting in a biconcave face. Bipartition distraction partially corrects these facial anomalies. This study investigates limitations of bipartition distraction using linear, angular, and geometric morphometric analysis. Preoperative and postoperative three-dimensional computed tomographic craniofacial constructs of 10 patients with Apert syndrome (aged 12 to 21 years) were annotated with 98 landmarks...
March 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29476210/a-child-with-apert-syndrome-and-sturge-weber-syndrome-could-fibronectin-or-the-ras-mapk-signaling-pathway-be-the-connection
#10
Ai Peng Tan, Wui Khean Chong
BACKGROUND: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutation in genes encoding fibroblast growth factor receptor 2 (FGFR2). Craniosynostosis, midfacial hypoplasia, and syndactyly/symphalangism are features of this syndrome. Sturge-Weber syndrome (SWS) on the other hand is a congenital neurocutaneous disorder characterized by facial port-wine stains (PWSs) and leptomeningeal vascular capillary malformations. In 2013, the causative mutation underlying SWS (p...
February 23, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29462887/identifying-factors-related-to-food-agency-cooking-habits-in-the-spanish-adult-population-a-cross-sectional-study
#11
Ángela García-González, María Achón, Elena Alonso-Aperte, Gregorio Varela-Moreiras
This study focuses on understanding factors that influence food agency in the Spanish population, specifically with regard to cooking habits, knowledge, and determinants and their possible relationship with body weight. A cross-sectional telephone survey was conducted. Individuals were asked about their cooking responsibilities, how they learned to cook, factors that affect their food choices, and their preferred cooking techniques. Anthropometric data were also recorded. Participants were randomly selected, and we finally had 2026 respondents aged ≥18 years (60% women, 40% men)...
February 15, 2018: Nutrients
https://www.readbyqxmd.com/read/29441430/prenatal-diagnosis-of-apert-syndrome-using-ultrasound-magnetic-resonance-imaging-and-three-dimensional-virtual-physical-models-three-case-series-and-literature-review
#12
Heron Werner, Pedro Castro, Pedro Daltro, Jorge Lopes, Gerson Ribeiro, Edward Araujo Júnior
OBJECTIVE: This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), and 3D virtual/physical models. METHODS: We retrospectively analyzed three cases of Apert syndrome at our service. The prenatal diagnostic methods used were 2D ultrasound, 3D ultrasound in conventional and HDlive rendering modes, T2-weighted MRI sequences, and 3D virtual/physical models from MRI or 3D ultrasound scan data...
February 13, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29438206/surgical-outcome-after-less-rigid-fixation-in-open-cranial-vault-remodeling-for-craniosynostosis
#13
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
https://www.readbyqxmd.com/read/29392564/craniosynostosis-as-a-clinical-and-diagnostic-problem-molecular-pathology-and-genetic-counseling
#14
REVIEW
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...
May 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29290519/reduced-intercarotid-artery-distance-in-syndromic-and-isolated-brachycephaly
#15
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)...
February 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29280877/choanal-atresia-and-craniosynostosis-development-and-disease
#16
REVIEW
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/29236889/syndromic-craniosynostosis-neuropsycholinguistic-abilities-and-imaging-analysis-of-the-central-nervous-system
#17
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
#18
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/29198073/apert-syndrome-magnetic-resonance-imaging-mri-of-associated-intracranial-anomalies
#19
REVIEW
Ai Peng Tan, Kshitij Mankad
INTRODUCTION: Apert syndrome is one of the most common craniosynostosis syndrome caused by mutations in genes encoding fibroblast growth factor receptor 2 (FGFR2). It is characterized by multisuture craniosynostosis, midfacial hypoplasia, abnormal skull base development and syndactyly of all extremities. Apert syndrome is associated with a wide array of central nervous system (CNS) anomalies, possibly the cause of the common occurrence of mental deficiency in patients with Apert syndrome...
February 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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
#20
Arianne Lewyllie, Maria Cadenas De Llano-Pérula, Anna Verdonck, Guy Willems
OBJECTIVES: To systematically review the methodological quality of three-dimensional 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 three-dimensional imaging of facial soft and/or hard tissues. Exclusion criteria consisted of non-syndromic conditions or conditions owing to environmental causes, injury or trauma, facial soft and hard tissues not included in the image analysis, case reports, reviews, opinion articles...
February 2018: Dento Maxillo Facial Radiology
keyword
keyword
70931
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"