نتایج جستجو برای: vacterl/ vater syndrom

تعداد نتایج: 2451  

Journal: :بینا 0
حسین محمدربیع h mohammad rabie ophthalmic research center, shahid beheshti university of medical sciences, tehran, iranدانشگاه علوم پزشکی شهید بهشتی- تهران- ایران نادر نصیری n nasiri ophthalmic research center, shahid beheshti university of medical sciences, tehran, iranدانشگاه علوم پزشکی شهید بهشتی- تهران- ایران محمدحسن سیفی mh seifi shahid beheshti university of medical sciencesدانشگاه علوم پزشکی شهید بهشتی- تهران- ایران الهام محمدربیع e mohammad rabie ophthalmic research center, shahid beheshti university of medical sciences, tehran, iranدانشگاه علوم پزشکی شهید بهشتی- تهران- ایران مهسان اسدی m assadi ophthalmic research center, shahid beheshti university of medical sciences, tehran, iranدانشگاه علوم پزشکی شهید بهشتی- تهران- ایران محمدعلی جوادی ma javadi ophthalmic research center, shahid beheshti university of medical sciences, tehran, iranدانشگاه علوم پزشکی شهید بهشتی- تهران- ایران

purpose: to present a case of unilateral epibulbar dermoid cyst in a girl with vacterl syndrome. case report: a 4-year-old girl was referred with a white, soft and painless mass in the inferotemporal limbus of the left eye having presented since birth. the patient was healthy with normal growth. other ocular examinations were normal. systematic review revealed a group of abnormalities including...

Journal: :Molecular syndromology 2013
S Siebel B D Solomon

VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER associa...

Journal: :Molecular medicine reports 2015
Nirmala Gurung Greta Grosse Markus Draaken Alina C Hilger Nuzhat Nauman Andreas Müller Ulrich Gembruch Waltraut M Merz Heiko Reutter Michael Ludwig

Danforth's short tail (Sd) mutant mice exhibit defects of the neural tube and other abnormalities, which are similar to the human vertebral anomalies, anal atresia, cardiac defects, tracheosophageal fistula and/or esophageal atresia, renal and radial abnormalities, and limb defects (VATER/VACTERL) association, including defects of the hindgut. Sd has been shown to underlie ectopic gene expressi...

Journal: :Molecular syndromology 2013
H Reutter M Ludwig

The VATER/VACTERL association is typically defined by the presence of at least 3 of the following congenital malformations: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. The involvement of genetic factors in the development of this rare association is suggested by reports of familial occurrence, the increased preva...

Journal: :Orphanet Journal of Rare Diseases 2011

Journal: :Clinical Dysmorphology 2012

2011
Benjamin D Solomon

VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. In addition to these core component features, patients may also have other congenital anomalies. Although diagnostic criteria vary, the incidence is estim...

Journal: :Pediatric Surgery International 2012

2017

Submit Manuscript | http://medcraveonline.com Abbreviations: TEF: Tracheoesophageal Fistula; VATER/ VACTERL: Vertebral defects, Anal atresia, Cardiac defects; TracheoEsophageal fistula, Renal malformations, and Limb defects; NG: Nasogastric tube; GA: General Anaesthesia; RA: Regional Anaesthesia; EA: Epidural Anaesthesia; ECG: Electrocardiogram; ECHO:Echocardiography; Inj.: Injection; PCV: Pack...

Journal: :American Journal of Medical Genetics Part A 2012

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