نتایج جستجو برای: complex vertebral malformation
تعداد نتایج: 824614 فیلتر نتایج به سال:
INTRODUCTION A boy presented with arthrogryposis multiplex congenita (AMC) associated with severe central nervous system dysfunction. The clinical history and the distinctive radiographic/tomographic features were consistent but not completely diagnostic for dysosteosclerosis. CASE PRESENTATION A 5-year-old boy from a consanguineous family in Austria was born with arthrogryposis multiplex con...
BACKGROUND Internal carotid artery agenesis is a rare anomaly that can be clinically asymptomatic. Klippel-Feil syndrome is a skeletal malformation characterized by vertebral fusion. Presence of postaxial polydactyly is suggestive of an underlying syndrome. CASE REPORT We report a rare case of a 44-year-old patient with non-specific symptoms and an association between these three rare abnorma...
Arteriovenous malformations or fistulae shunting arterial blood from branches of the external and internal carotid and vertebral arteries into the transverse-sigmoid sinus may produce different clinical syndromes. The literature is reviewed with 96 patients including six personal cases. Usually these malformations have a congenital origin and only in 4% of the series was there a previous histor...
A patient with progressive signs and symptoms suggestive of a pontine lesion is described. Intracranial investigations, CAT scan, vertebral angiography, and lumbar pneumoencephalogram revealed a space-occupying lesion of the pons and midbrain. The exact nature of the lesion was not established before the operation. A posterior fossa exploration was performed and a pontine haematoma was discover...
A 54-year-old female presented with a cryptic arteriovenous malformation (AVM) of the choroid plexus of the fourth ventricle causing intraventricular hemorrhage. Computed tomography and magnetic resonance imaging disclosed the lesion near the fourth ventricle, but bilateral vertebral angiograms showed no abnormalities. The preoperative diagnosis was cavernous angioma. The mass was removed compl...
Recent advances in arteriographic techniques have considerably widened the scope of the surgical treatment of arteriovenous malformations involving spinal vessels. Such lesions have been successfully treated by various neurosurgical methods (Houdart, Djindjian and Hurth 1966; Love, Svien, Baker and Layton 1966; Ommaya, Di Chiro and Doppman 1969). The following case history is of interest in tha...
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 gene. The phenotypic spectrum of SLOS is broad, ranging from a mild phenotype co...
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