نتایج جستجو برای: ventricle hypoplasia

تعداد نتایج: 45242  

2014
Alper Özgür Karaçalıoğlu Seyfettin Gümüş Semra İnce Sait Demirkol

The "Scimitar syndrome" is a rare congenital anomaly characterized by combination of partial or complete pulmonary venous return from the right lung to the inferior vena cava either above or below the diaphragm together with hypoplasia of the right lung and sometimes systemic arterial supply to the right lung. In this case, multimodality imaging findings such as the vein draining into the infer...

Journal: :Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir 2014
Murat Saygı Hasan Tahsin Tola Alper Güzeltaş Ender Odemiş

A 14-year-old male patient presented with cyanosis and tiredness. The patient had undergone a Glenn procedure at age 12 following the echocardiographic determination of a double inlet left ventricle, ventriculoarterial discordance, moderate valvular-subvalvular pulmonary artery stenosis, non-restrictive inlet ventricular septal defect and right ventricle hypoplasia; his oxygen saturation was 70...

Journal: :AJNR. American journal of neuroradiology 2009
P Jissendi-Tchofo D Doherty G McGillivray R Hevner D Shaw G Ishak R Leventer A J Barkovich

BACKGROUND AND PURPOSE Malformations of the brain stem are uncommon. We present MR imaging and diffusion tensor imaging (DTI) features of 6 patients with pontine tegmental cap dysplasia, characterized by ventral pontine hypoplasia and a dorsal "bump," and speculate on potential mechanisms by which it forms. MATERIALS AND METHODS Birth and developmental records of 6 patients were reviewed. We ...

Journal: :Journal of medical genetics 2011
Ute Moog Kerstin Kutsche Fanny Kortüm Bettina Chilian Tatjana Bierhals Neophytos Apeshiotis Stefanie Balg Nicolas Chassaing Christine Coubes Soma Das Hartmut Engels Hilde Van Esch Ute Grasshoff Marisol Heise Bertrand Isidor Joanna Jarvis Udo Koehler Thomas Martin Barbara Oehl-Jaschkowitz Els Ortibus Daniela T Pilz Prab Prabhakar Gudrun Rappold Isabella Rau Günther Rettenberger Gregor Schlüter Richard H Scott Moonef Shoukier Eva Wohlleber Birgit Zirn William B Dobyns Gökhan Uyanik

BACKGROUND Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be associated with a distinct brain malformation phenotype in females, including disproportionate pontine and cerebellar hypoplasia. METHODS The study characterised the CASK alteration in 20 new female patients by molecular karyotyping, fluorescence in situ hybridisation, sequencing, reverse transcriptase (RT) and...

Journal: :Journal of molecular and cellular cardiology 2007
Satish K Rajagopal Qing Ma Dita Obler Jie Shen Ani Manichaikul Aoy Tomita-Mitchell Kari Boardman Christine Briggs Vidu Garg Deepak Srivastava Elizabeth Goldmuntz Karl W Broman D Woodrow Benson Leslie B Smoot William T Pu

The transcription factor GATA4 is essential for heart morphogenesis. Heterozygous mutation of GATA4 causes familial septal defects. However, the phenotypic spectrum of heterozygous GATA4 mutation is not known. In this study, we defined the cardiac phenotypes that result from heterozygous mutation of murine Gata4. We then asked if GATA4 mutation occurs in humans with these forms of congenital he...

Journal: :British heart journal 1981
L M Gerlis J B Partridge G I Fiddler G Williams O Scott

A short review of two chambered left ventricle is given, and this rare condition is briefly compared and contrasted with the more common condition involving the right ventricle. Three cases are described, each of which presents a new variety of subdivision of the left ventricle; in two of these the condition was first shown by angiocardiography. The first case had left heart hypoplasia with dys...

2014
Selma Bozkurt Zincir Yiğit Kıvılcım Filiz İzci Umit Basar Semiz

Dandy-Walker variant is a developmental malformation consisting of cerebellar hypoplasia and cystic dilatation of the fourth ventricle. Previous research has proposed a possible role for the cerebellum in cognition and in schizophrenia. In this paper we report a schizophrenia-like psychotic disorder in a 30 year-old woman with Dandy-Walker variant. The patient was treated with risperidone 6 mg/...

2015
Dandy Walker Surekha U Arakeri Himanshu Mulay

Introduction: Dandy Walker Syndrome (DWS) is a congenital brain malformation characterized by hypoplasia or absence of cerebellar vermis, cystic dilatation of fourth ventricle and hydrocephalus. It is frequently associated with other congenital anomalies. Associated central nervous system anomalies such as agenesis of corpus callosum and vermis are associated with poor prognosis. Association of...

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