HEREDITARY MALFORMATION.

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چکیده

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منابع مشابه

Spontaneous regression of cerebral arteriovenous malformation in hereditary hemorrhagic telangiectasia.

Cerebral arteriovenous malformations (AVMs) are associated with hereditary hemorrhagic telangiectasia (HHT). I report a case of a patient with HHT with four cerebral AVMs in whom one AVM spontaneously regressed during a 5-year period. The spontaneous regression of this AVM in this patient with HHT supports the theory that AVMs associated with this syndrome have a different natural history than ...

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Teaching NeuroImages: cerebral arteriovenous malformation in hereditary hemorrhagic telangiectasia.

A 41-year-old woman with a history of recurrent epistaxis presented with left hemiplegia, right gaze deviation, and dysarthria. Physical examination confirmed skin and lip telangiectasia (figure 1). Her son had pulmonary arteriovenous malformation (AVM). Her head CT and cerebral angiography revealed right parietal hemorrhage with parasagittal AVM (figure 2). Hereditary hemorrhagic telangiectasi...

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Neonatal pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasia.

A 3 week old infant presented with persistent hypoxaemia and was diagnosed with pulmonary arteriovenous malformations. Her family history was positive for hereditary haemorrhagic telangiectasia. She was treated successfully with coil embolotherapy at the age of 4 months. Transcatheter embolisation may be considered the primary treatment for pulmonary arteriovenous malformations in infancy.

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Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessment.

BACKGROUND AND PURPOSE The purpose of this study was to quantitatively estimate the relationship between multiplicity of brain arteriovenous malformations (bAVMs) and the diagnosis of hereditary hemorrhagic telangiectasia (HHT). METHODS We combined databases from 2 large North American bAVM referral centers, including demographics, clinical presentation, and angiographic characteristics, and ...

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Mutation analysis of a family with hereditary hemorrhagic telangiectasia associated with hepatic arteriovenous malformation.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia. Two related genes, endoglin and activin receptor-like kinase (ALK-1), have been mapped to chromosomes 9q34 and 12q13, respectively. We describe a Taiwanese HHT family with hepatic arteriovenous malformation. Clinical and molecular evaluations were performed in eight m...

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ژورنال

عنوان ژورنال: The Lancet

سال: 1858

ISSN: 0140-6736

DOI: 10.1016/s0140-6736(02)76192-8