Neurocutaneous diseases – a study of 61 cases |
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| Authors: | R M Joshi B A Bharucha Dr N B Kumta |
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| Institution: | (1) Genetic Clinic, Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Paral, Bombay |
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| Abstract: | Sixty-one cases of neurocutaneous diseases are analysed within a broad concept. Inborn errors of metabolism affecting the
cells of skin and nervous system formed the commonest of the groups (13 cases). Pigmentary disorders formed the commonest
of the cutaneous features (13 cases) and mental retardation was the commonest of neurological features (42 cases). Biological
analysis revealed that 70.48% of cases had single gene disorders, 8.20% cases had chromosomal disorders and 21.32% the cases
were of unknown etiology. |
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| Keywords: | Syndromes Neurocutaneous syndromes Neuroectodermoses Phakomatoses Ectodermal dysplasias |
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