نتایج جستجو برای: malformation

تعداد نتایج: 15277  

Journal: :Turkish neurosurgery 2016
Laszlo Nagy James Mobley Coby Ray

This article reports the largest familial aggregation of Chiari malformation in a single family to date as reported in the literature. This study is a retrospective case series of a family of whom five individuals have a confirmed case of Chiari malformation and three additional individuals have Chiari signs and symptoms. This contribution further supports the implication of genetics in the tra...

Journal: :International journal of reproduction, contraception, obstetrics and gynecology 2022

Cerebral AV malformation in pregnancy is a rare condition with prevalence rate of approximately 0.01-0.5%. It generally presents symptoms at 20-40 years age most commonly around 30 age. affects both men and women but more prevalent this group. We presented case primi gravida 22 weeks gestation DCDA type twin presenting emergency department intracranial hemorrhage secondary to rupture malformati...

Journal: :Journal of Pakistan Medical Association 2023

Dandy-Walker Malformation (DWM) is a rare congenital anomaly of the posterior cranial fossa. Features DWM include hypoplasia cerebellar vermis, enlargement fossa, and cystic dilatation fourth ventricle. MRI modality to confirm diagnosis. Treatment usually symptomatic required when signs hydrocephalus develop. Rare cases asymptomatic diagnosed incidentally are reported in literature. We report c...

Journal: :poultry science journal 2014
madadi ms karimi h azari m

malformations which occur during the development of the avian body organs can lead to structural and functional abnormalities. most defects are recognized at hatching, but some go undetected until somewhat later. the cause of the majority of animal congenital malformations is unknown. a significant proportion of congenital malformations of unknown cause are likely to have an important genetic c...

Journal: :reports of biochemistry and molecular biology 0
reza ebrahimzadeh-vesal department of medical genetics, medical sciences, university of tehran, iran seyed kianush hosseini tehran heart center, medical sciences, university of tehran, iran fereshteh rezakhanlu tehran heart center, medical sciences, university of tehran, iran pupak derakhshandeh-peykar tel: +49 15254230228; fax: +49 89-309088666

holt-oram syndrome (hos) is a developmental disorder inherited in an autosomal-dominant pattern. affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. in this study we present three cases of hos in the same family. in one of these three individuals we detected a transition of c to t (ctg-gtt, v205v) in exon 7 of the tbx5 gene. this ...

Journal: :Journal of clinical images and medical case reports 2021

Neurologic sequalae of Noonan syndrome have been postulated in the literature. A topic significance is role RASopathy shared pathophysiology Syndrome and Chiari I malformation. In this unique case report, we present a patient with concomitant 4th ventricular outflow obstruction. The highlights importance close clinical suspicion population. We utilize to delve into intricacies known encourage o...

Journal: :Nepal Mediciti medical journal 2023

Cerebral cavernous Malformation (CCM) is a rare neurovascular malformation accounting 0.5% to 4% of all intracranial vascular malformations. People harboring CCM may be symptomatic or present with seizure, hemorrhage progressive neurological deficit. Asymptomatic needs no treatment. The not require intervention. best treatment for microsurgical excision. Over period five years we have been mana...

Journal: :acta medica iranica 0
s. shahidnoorai m.rahbar

pulmonary arteriovenous malformations are rare clinical entities thai are associated with right to left shunts, and are often clinically presented by the triad of dyspnea, cyanosis, and digital clubbing. currently, transcatheter embolization of fistula is gaining increasing popularity as the superior therapeutic option. in certain situations, however, surgery is preferred. two cases of direct p...

Journal: :caspian journal of internal medicine 0
ghodratollah maddah endoscopic and minimally invasive surgery research center, mashhad university of medical sciences, mashhad, iran abbas abdollahi surgical oncology research center, mashhad university of medical sciences, mashhad, iran omid rouhbakhshfar student research committee, faculty of medicine, mashhad university of medical sciences, mashhad, iran shirin taraz jamshidi cancer research center, mashhad university of medical sciences, mashhad, iran masoumeh hassanpour surgical oncology research center, mashhad university of medical sciences, mashhad, iran

background: arteriovenous malformations are one of the most common vascular disorders of the colon. vascular disorders present as painless, high-volume rectal bleeding. case presentation: this study elucidates two rare cases of vascular disorders that are diagnosed as angiodysplasia of the left colon and cavernous hemangioma of the colon and rectum.  the chief complaint in two patients was rect...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1974
M G Norman L E Becker

Seven neonates with arteriovenous malformation of the vein of Galen are described. Six presented with cyanotic heart failure. Two cases had antenatal cerebral infarction, five periventricular leukomalacia, and three recent haemorrhagic infarction. Cerebral damage due to the malformation suggests that surgical correction of the arteriovenous malformation offers little to neonates, though after t...

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