Neurocutaneous Syndromes
Mostrando 1-3 de 3 artigos, teses e dissertações.
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1. Neurofibromatose type 1: immediate repairing with cutaneous remnants loco-regionais / Neurofibromatose tipo 1: reparação imediata com retalhos cutâneos loco-regionais
A meta da presente pesquisa foi apresentar técnicas cirúrgicas associadas ou isoladas, na tentativa de, utilizando cirurgias menos traumáticas e mais eficientes, proporcionar resultados menos estigmatizantes e deformantes para dar aos portadores da neurofibromatose tipo 1 (NF1) uma qualidade de vida mais digna e melhor integração social. Estudou-se nest
Publicado em: 2004
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2. A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma
Neurocutaneous syndromes represent a vast, largely heterogeneous group of disorders characterized by neurological and dermatological manifestations, reflecting the common embryonic origin of epidermal and neural tissues. In the present report, we describe a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and kerato
The American Society of Human Genetics.
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3. Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency.
A boy, born to first cousin parents of Algerian origin, first presented at the age of 9 years with growth failure, mental retardation, and dysmorphic facies. Progressive vitiligo developed from the age of 12 and distal duplication of the urethra was later recognised. The basis of this syndrome remains to be determined; autoimmune disease, chromosomal breakag