Document Detail

Extreme variant of septo-optic dysplasia.
MedLine Citation:
PMID:  3934619     Owner:  NLM     Status:  MEDLINE    
A newborn female is demonstrated, the first child of healthy unrelated parents who was born after an uneventful pregnancy. Computerized tomography of the brain revealed gross malformations of the parietal and occipital lobes, of the cerebellum and of midline structures. The pictures are reminiscent of hydranencephaly. The association with bilateral coloboma of the papilla and diabetes insipidus is considered an extreme variant of septo-optico dysplasia.
K Stehr; U Mayer; R A Pfeiffer; R Reif
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmic paediatrics and genetics     Volume:  5     ISSN:  0167-6784     ISO Abbreviation:  Ophthalmic Paediatr Genet     Publication Date:  1985 Apr 
Date Detail:
Created Date:  1985-12-26     Completed Date:  1985-12-26     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8206832     Medline TA:  Ophthalmic Paediatr Genet     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  159-64     Citation Subset:  IM    
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MeSH Terms
Brain / abnormalities*,  radiography
Diagnosis, Differential
Eye Abnormalities*
Genetic Variation
Infant, Newborn
Optic Atrophy / diagnosis
Tomography, X-Ray Computed

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