نتایج جستجو برای: skeletal malformation

تعداد نتایج: 112139  

2017
Geetha Lakshmi

Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form We report a case of autosomal dominant inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the mal...

Journal: :AJNR. American journal of neuroradiology 2005
S Ziyeh R Strecker A Berlis J Weber J Klisch I Mader

Time-resolved, contrast-enhanced 3D MR angiography combined with parallel imaging at 3T was applied to an intracranial arteriovenous malformation, a dural arteriovenous fistula, and an extracranial facial arteriovenous malformation. The temporal resolution was one image every 1.5 seconds. Arterial feeders were depicted in all three cases. Early venous drainage was observed in the intracerebral ...

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: :asian journal of sports medicine 0
stephen stannard school of sport and exercise, massey university, new zealand

fasting induces short-term physiological adaptations which spare the body's remaining carbohydrate stores and mobilize lipid stores to provide a substitute fuel for many tissues and organs, especially skeletal muscle. rodent studies show that regular occurrence of fasting then refeeding, stimulates adaptations in muscle which make the animal better placed to withstand a further period of fastin...

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...

2005
STANLEY M. GARN LAWRENCE R. KUHNS

In many congenital malformation syndromes the pattern of hand-wrist development does not fit the sequence pictured in the Greulich-Pyle atlas. Not infrequently, there is a difference in maturation level of carpal and phalangeal centers in excess of that found in clinically normal children. Usually, the carpal centers are less developed than the phalangeal centers, whereas overall skeletal matur...

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