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MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.

作者信息

Peserico A, Battistella P A, Bertoli P

机构信息

Istituto di Clinica Dermosifilopatica, Università di Padova, Italy.

出版信息

Neuroradiology. 1992;34(4):316-7. doi: 10.1007/BF00588190.

Abstract

PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, 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.

摘要

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