Fetal neuroaxonal dystrophy: a new etiology of fetal akinesia

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Fetal akinesia: review of the genetics of the neuromuscular causes.

Fetal akinesia refers to a broad spectrum of disorders in which the unifying feature is a reduction or lack of fetal movement. Fetal akinesias may be caused by defects at any point along the motor system pathway including the central and peripheral nervous system, the neuromuscular junction and the muscle, as well as by restrictive dermopathy or external restriction of the fetus in utero. The f...

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Infantile neuroaxonal dystrophy.

as encephalitis, diabetes, heart failure, carbon monoxide poisoning, and cerebral arteriosclerosis. However, in a few recorded cases spheroids were sufficiently numerous to dominate the morphological picture. Some of these patients were infants or children showing a somewhat uniform clinical picture and pattern of encephalopathy, so that they could have been cases of the same disease or syndrom...

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Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence.

OBJECTIVE To present the appearance of the fetal akinesia deformation sequence by three-dimensional ultrasonography after four-dimensional ultrasonographic scanning. METHODS Three-dimensional surface-rendering images were used to show the fixed postural abnormalities of the fetal extremities and body. Four-dimensional ultrasonography was used to show that the postural abnormalities were fixed...

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Infantile Neuroaxonal Dystrophy

Keywords Disease names and synonyms Definition/Diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Management Unresolved questions References Abstract Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder with onset in the first or second year of life. Frequency is unknown. It is characterized by a pr...

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ژورنال

عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

سال: 2018

ISSN: 0317-1671,2057-0155

DOI: 10.1017/cjn.2018.43