Summary
PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination.
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Peserico, A., Battistella, P.A. & Bertoli, P. MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S. Neuroradiology 34, 316–317 (1992). https://doi.org/10.1007/BF00588190
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DOI: https://doi.org/10.1007/BF00588190