Neurocutaneous syndromes in art and antiquities
نویسندگان
چکیده
منابع مشابه
Common Neurocutaneous Syndromes.
Neurocutaneous syndromes are a diverse group of neurologic disorders with concurrent skin manifestations. Most neurocutaneous syndromes have a genetic basis and are believed to arise from a defect in the differentiation of the primitive ectoderm. In this regard, the skin can be a window into the central nervous system and can aid in the diagnosis of neurologic disease in children. The cutaneous...
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Epilepsy may be seen as a feature of many of the neurocutaneous syndromes. The challenge lies within the diagnosis of the specific disorder and ultimately control of the epilepsy. Tuberous sclerosis is the most common of the disorders with a frequency of 4.9/100,000. An autosomal-dominant condition, diagnostic features may be unclear under 2 years of age. Population studies suggest a prevalence...
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This review highlights the diagnostic criteria and neuro-ophthalmic symptoms and signs of the more commonly seen neurocutaneous disorders, including NF1 and NF2, tuberous sclerosis, VHL disease, Sturge-Weber disease, and AT. The distinct neuro-ophthalmic features in each of these hereditary and congenital disorders play an important role in clinical diagnosis.
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
سال: 2021
ISSN: 1552-4868,1552-4876
DOI: 10.1002/ajmg.c.31917