| MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S. | |
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MedLine Citation:
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PMID: 1528442 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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A Peserico; P A Battistella; P Bertoli |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Neuroradiology Volume: 34 ISSN: 0028-3940 ISO Abbreviation: Neuroradiology Publication Date: 1992 |
Date Detail:
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Created Date: 1992-10-20 Completed Date: 1992-10-20 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 1302751 Medline TA: Neuroradiology Country: GERMANY |
Other Details:
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Languages: eng Pagination: 316-7 Citation Subset: IM |
Affiliation:
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Istituto di Clinica Dermosifilopatica, Università di Padova, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Basal Ganglia
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pathology Brain / pathology* Brain Diseases, Metabolic / diagnosis, genetics* Cerebral Ventricles / pathology Child Ectodermal Dysplasia / diagnosis, genetics* Female Humans Magnetic Resonance Imaging* Mental Retardation / diagnosis, genetics* Muscle Spasticity / diagnosis, genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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