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Cranial dysplasias

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https://www.readbyqxmd.com/read/29927421/-extended-endoscopic-endonasal-posterior-transclival-approach-to-tumors-of-the-clival-region-and-ventral-posterior-cranial-fossa-part-3-analysis-of-surgical-treatment-outcomes-in-127-patients
#1
A N Shkarubo, K V Koval', B A Kadashev, D N Andreev, I V Chernov
Until recently, tumors of the clival region and ventral posterior cranial fossa were considered hard-to-reach and often inoperable via standard transcranial approaches. The introduction of minimally invasive methods combined with the endoscopic technique into neurosurgical practice has enabled removal of hard-to-reach tumors, including midline tumors of the ventral posterior cranial fossa. OBJECTIVE: To improve and introduce the extended endoscopic endonasal posterior (transclival) approach into clinical practice and to analyze the results of its application in surgical treatment of midline skull base tumors extending into the ventral posterior cranial fossa...
2018: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/29924878/chiari-i-malformation-and-basilar-invagination-in-fibrous-dysplasia-prevalence-mechanisms-and-clinical-implications
#2
Kristen S Pan, John D Heiss, Sydney M Brown, Michael T Collins, Alison M Boyce
Fibrous dysplasia (FD) is a mosaic disorder of benign fibro-osseous lesions, which may be associated with extraskeletal features as part of McCune-Albright syndrome (MAS). Cranial base abnormalities, including Chiari I malformation (CM1), in which the cerebellum extends below the foramen magnum, and secondary basilar invagination (BI), in which the odontoid prolapses into the posterior cranial fossa, are potentially serious complications of metabolic bone disorders. The purpose of this study was to determine the prevalence, natural history, and risk factors for CM1 and BI in patients with FD/MAS, and to determine mechanisms of cranial base deformities...
June 20, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29917006/docking-of-the-femoral-head-following-closed-reduction-for-ddh-does-it-really-occur
#3
Nakul S Talathi, Nancy A Chauvin, Wudbhav N Sankar
BACKGROUND: It has been suggested that the femoral head can "dock" deeper into the acetabulum after initial closed reduction (CR) for developmental dysplasia of the hip (DDH). The purpose of this study was to quantify the interval change in femoral head position between immediate postoperative magnetic resonance imaging (MRI) and follow-up imaging at ~3 weeks. METHODS: A retrospective review of 29 patients (30 hips) who underwent CR and spica casting for DDH was conducted...
June 18, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29886284/multiple-supernumerary-teeth-in-a-likely-syndromic-individual-from-prehistoric-illinois
#4
Lita Sacks
OBJECTIVE: This paper reports the first published case of a prehistoric human with five or more supernumerary teeth. Such cases are often neglected in paleopathology, in part due to a gap between the medicodental and anthropological literature leading to the view in anthropology that supernumerary teeth are curious anomalies rather than pathologies. DESIGN: Reconstruction and pathological description of the skeletal remains were performed according to standard osteological protocols...
June 4, 2018: Archives of Oral Biology
https://www.readbyqxmd.com/read/29885186/lenz-majewskihyperostotic-dwarfism-a-pakistani-patient-with-atypical-features
#5
Ghulam Murtaza, Adeel Khalid, Muhammad Armughan Ali, Arsalan Majeed Adam, Warisha Ikhlaq, Ayaz Ahmed
Lenz-Majewski Hyperostotic Dwarfism (LMHD) is an extremely rare congenital, sclerosing bone dysplasia that causes cranio-tubular hyperostosis, ectodermal dysplasia (cutis laxa and enamel hypoplasia), osseous dysgenesis of hands and feet with diaphyseal cortical thickening of tubular bones and intellectual disability. Only a few cases of this syndrome have been reported in the literature so far. We report another case of LMHD with cranio-tubular hyperostosis, cutis laxa, wide open anterior and posterior fontannels, hypertelorism and thickening of diaphysis of tubular bones in a six months old Pakistani female patient...
May 2018: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/29859820/fibrous-dysplasia-imitating-malignancy
#6
Markus Martini, Anne Klausing, Nils Heim, Hans-Peter Fischer, Alexandra Sommer, Rudolf Hermann Reich
Fibrous dysplasia is a benign bone disease, presenting as monostotic or polyostotic lesions, or as part of a syndrome (McCune-Albright/Mazabraud). Its clinical course shows a variegated picture and the progression of its growth is unpredictable. In the workup of 39 fibrous dysplasia cases in the cranio-facial area, four cases presented fast growth tendencies, of which two patients with McCune-Albright syndrome showed malignant-like rapid growth. This local aggressive form is extremely rare, and the concept of this issue has not been clearly defined...
May 12, 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29844914/a-collet-sicard-syndrome-due-to-internal-carotid-artery-dissection-associated-with-cerebral-amyloid-angiopathy-related-inflammation
#7
Vanessa Saliou, Douraied Ben Salem, Julien Ognard, Dewi Guellec, Pascale Marcorelles, François Rouhart, Fabien Zagnoli, Serge Timsit
Background: Cerebral amyloid angiopathy-related inflammation is a rare condition with approximately 100 reported cases. Its clinical manifestations are varied. We report here a novel presentation of this disease. Case presentation: A 61-year-old Caucasian man presented with rapidly progressive paralysis of the IX, X, XI and XII right cranial nerves associated with right central facial nerve palsy. Brain computed tomography angiography and cerebral catheter angiography found a focal fusiform enlargement of the distal cervical portion of the right internal carotid artery, related to a pseudo-aneurysm suggesting an evolution of a dissection and intra-cranial vessel dysplasia...
2018: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29796728/genetic-study-of-eight-egyptian-patients-with-pycnodysostosis-identification-of-novel-ctsk-mutations-and-founder-effect
#8
G A Otaify, M S Abdel-Hamid, M I Mehrez, E Aboul-Ezz, M S Zaki, M S Aglan, S A Temtamy
This is the first Egyptian study with detailed clinical and orodental evaluation of eight patients with pycnodysostosis and identification of four mutations in CTSK gene with two novel ones and a founder effect. INTRODUCTION: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia due to mutations in the CTSK gene encoding for cathepsin K, a lysosomal cysteine protease. METHODS: We report on the clinical, orodental, radiological, and molecular findings of eight patients, from seven unrelated Egyptian families with pycnodysostosis...
May 23, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29787982/neuroimaging-findings-of-extensive-sphenoethmoidal-dysplasia-in-nf1
#9
Allison Tam, Joseph M Sliepka, Sunil Bellur, Collin Douglas Bray, Christie M Lincoln, Sandesh C S Nagamani
Whereas isolated sphenoid wing dysplasia (SWD) is a well-known clinical feature in neurofibromatosis 1 (NF1), extensive cranial defects involving multiple bones have been rarely reported in this disorder. In this report, we describe the clinical course of a 20-year-old male with NF1 and an extensive cranial bone dysplasia. The large sphenoethmoidal defect was associated with transethmoidal and orbital cephalocele as well as inferolateral herniation of the frontal lobe. In spite of the large defect, the individual did not have any symptoms or complications resulting from the osteopathy...
May 16, 2018: Clinical Imaging
https://www.readbyqxmd.com/read/29692521/clinicoradiological-aspects-of-pontine-tegmental-cap-dysplasia-case-report-of-a-rare-hindbrain-malformation
#10
Aanchal Bhayana, Sunil K Bajaj, Ritu N Misra, S Senthil Kumaran
Malformations involving the brainstem are very rare and present with a varied spectrum of clinical symptoms due to multiple cranial nerve palsies and pyramidal tract involvement. Of these, pontine tegmental cap dysplasia is a very unusual malformation, characterized by ventral pons hypoplasia and an ectopic dorsal band of tissue, projecting into the fourth ventricle, from dorsal pontine tegmentum. A 4-year-old male child, presenting with left facial nerve palsy, revealed hypoplastic ventral pons and an ectopic structure on magnetic resonance imaging (MRI)...
January 2018: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29666333/a-novel-alu-mediated-microdeletion-in-the-runx2-gene-in-a-chinese-patient-with-cleidocranial-dysplasia
#11
Yunzhu Qian, Yingying Zhang, Bin Wei, Mengshu Zhang, Jianxin Yang, Cuihua Leng, Zili Ge, Xingshun Xu, Miao Sun
Cleidocranial dysplasia (CCD; OMIM: 119600) is a rare autosomal dominant skeletal dysplasia caused by RUNX2 gene mutations. The present study described a sporadic case with CCD. The clinical data of the proband with CCD was reported and genetic analysis was performed. The proband presented with typical CCD features including supernumerary impacted teeth, bilateral clavicle dysplasia, delayed closure of cranial sutures, and short stature; while his hands were normal. Sequencing analysis of the entire coding region of the RUNX2 gene revealed no pathogenic changes; however, copy-number analysis with the Affymetrix HD array found ~500 kb genomicmicrodeletion...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29624481/craniofacial-manifestations-of-systemic-disorders-ct-and-mr-imaging-findings-and-imaging-approach
#12
V Carlota Andreu-Arasa, Margaret N Chapman, Hirofumi Kuno, Akifumi Fujita, Osamu Sakai
Many systemic diseases or conditions can affect the maxillofacial bones; however, they are often overlooked or incidentally found at routine brain or head and neck imaging performed for other reasons. Early identification of some conditions may significantly affect patient care and alter outcomes. Early recognition of nonneoplastic hematologic disorders, such as thalassemia and sickle cell disease, may help initiate earlier treatment and prevent serious complications. The management of neoplastic diseases such as lymphoma, leukemia, or Langerhans cell histiocytosis may be different if diagnosed early, and metastases to the maxillofacial bones may be the first manifestation of an otherwise occult neoplasm...
May 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29573740/posturography-and-dynamic-pedobarography-in-lame-dogs-with-elbow-dysplasia-and-cranial-cruciate-ligament-rupture
#13
José M Carrillo, Maria E Manera, Mónica Rubio, Joaquin Sopena, Angelo Santana, José M Vilar
BACKGROUND: The usefulness of studying posture and its modifications due to locomotor deficiencies of multiple origins has been widely proven in humans. To assess its suitability in the canine species, static posturography and dynamic pedobarography were performed on lame dogs affected with unilateral elbow dysplasia and cranial cruciate ligament rupture by using a pressure platform. With this objective, statokinesiograms and stabilograms, the percentage of pressure distribution between limbs, paw area, mean pressure, and peak pressure, were obtained from lame and sound dogs...
March 24, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29567674/whole-genome-sequencing-of-atacama-skeleton-shows-novel-mutations-linked-with-dysplasia
#14
Sanchita Bhattacharya, Jian Li, Alexandra Sockell, Matthew J Kan, Felice A Bava, Shann-Ching Chen, María C Ávila-Arcos, Xuhuai Ji, Emery Smith, Narges B Asadi, Ralph S Lachman, Hugo Y K Lam, Carlos D Bustamante, Atul J Butte, Garry P Nolan
Over a decade ago, the Atacama humanoid skeleton (Ata) was discovered in the Atacama region of Chile. The Ata specimen carried a strange phenotype-6-in stature, fewer than expected ribs, elongated cranium, and accelerated bone age-leading to speculation that this was a preserved nonhuman primate, human fetus harboring genetic mutations, or even an extraterrestrial. We previously reported that it was human by DNA analysis with an estimated bone age of about 6-8 yr at the time of demise. To determine the possible genetic drivers of the observed morphology, DNA from the specimen was subjected to whole-genome sequencing using the Illumina HiSeq platform with an average 11...
April 2018: Genome Research
https://www.readbyqxmd.com/read/29561485/surgical-simulation-and-custom-made-implant-for-cranial-fibrous-dysplasia
#15
Yoshiaki Sakamoto, Tomoru Miwa, Kazunari Yoshida, Kazuo Kishi
BACKGROUND: The management of fronto-orbital fibrous dysplasia involves total excision of the dysplastic bone and bone reconstruction using implants. Custom-made implants are used to achieve good contouring. However, the remnant defect after excising the lesion often does not match the implant. METHODS: To design the craniotomy line, a template was prepared by preoperative computed surgical simulation. The template was overlaid on the preoperative cranium, such that its inner surface fits exactly with the cranial surface...
March 20, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29535107/diagnosis-of-sporadic-neurofibromatosis-type-2-in-the-paediatric-population
#16
Geetha Anand, Grace Vasallo, Maria Spanou, Saumya Thomas, Michael Pike, Didu Sanduni Kariyawasam, Sanjay Mehta, Allyson Parry, Juliette Durie-Gair, James Nicholson, Karine Lascelles, Vanessa Everett, Frances Mary Gibbon, Nicola Jarvis, John Elston, Dafydd Gareth Evans, Dorothy Halliday
OBJECTIVE: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation. DESIGN: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service...
May 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29520374/cleidocranial-dysplasia-dental-disorder-treatment-and-audiology-diagnosis
#17
Teresa Matthews-Brzozowska, Dorota Hojan-Jezierska, Wawrzyniec Loba, Marta Worona, Artur Matthews-Brzozowski
A review of numerous case reports was made, in order to demonstrate the possibilities for treatment of dental disorders in patients with Cleidocranial dysplasia (CCD). In this paper, our own report, including a diagnosis of the effect on the auditory system, is presented. In addition to the triad of CCD symptoms that include hypoplastic or aplastic clavicles, impacted and supernumerary teeth, delayed closure of fontanelles and cranial sutures, impairment of the hearing system resulting in conductive hearing loss also occurs...
2018: Open Medicine (Warsaw, Poland)
https://www.readbyqxmd.com/read/29496208/developmental-dysplasia-of-the-hip-in-female-adult-individual-site-tres-cruces-i-salta-argentina-superior-formative-period-400-1000-ad
#18
Marcos Plischuk, María Eugenia De Feo, Bárbara Desántolo
Developmental dysplasia of the hip (DDH) is a developmental defect that prevents normal articulation between the acetabulum and the femoral head. This is an unusual condition, with a prevalence of 1-2 per thousand, and with only two poorly described skeletons documented in South American paleopathological literature. In this work we report an individual with such a condition, from the archeological site Tres Cruces I (Quebrada del Toro, Salta, Argentina). Several radiocarbon dates and associated materials date it to the Superior Formative (400-1000 AD)...
March 2018: International Journal of Paleopathology
https://www.readbyqxmd.com/read/29444796/biopsy-proven-multiple-sclerosis-in-an-adult-patient-with-atypical-craniometaphyseal-dysplasia
#19
Jacopo C DiFrancesco, Giuseppe Isimbaldi, Maria Francesca Bedeschi, Barbara Castellotti
Craniometaphyseal dysplasia (CMD) is a rare condition characterised by progressive, diffuse hyperostosis of cranial and long bones, with compression of cranial nerves, linked to mutations in ANKH or GJA1 genes. Here we describe an adult case with clinical features of CMD, who developed cerebral expansive lesion of undetermined nature. Brain biopsy revealed active demyelinating lesions, consistent with multiple sclerosis. The genetic screening of target genes for CMD ( ANKH and GJA1 ) resulted negative in this patient...
February 14, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29390266/pycnodysostosis-with-novel-gene-mutation-and-sporadic-medullary-thyroid-carcinoma-a-case-report
#20
Xiulin Shi, Caoxin Huang, Fangsen Xiao, Wei Liu, Jinyang Zeng, Xuejun Li
RATIONALE: Pycnodysostosis is a rare autosomal recessive skeletal dysplasia caused by a mutation in the cathepsin K encoded by cathepsin K gene (CTSK). Medullary thyroid carcinoma (MTC) is also a relatively rare type of primary thyroid carcinoma. PATIENT CONCERNS: A 31-year-old woman presenting a short stature and a palpable nodule in the front of her neck that had gradually increased in size during the last 2 years was referred to our department. She has experienced multiple fractures at lower limbs in the last 2 decades...
December 2017: Medicine (Baltimore)
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