Document Detail

Encephalocraniocutaneous lipomatosis: case report and review of the literature.
MedLine Citation:
PMID:  12792489     Owner:  NLM     Status:  MEDLINE    
PURPOSE: Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present. METHODS: To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature. CONCLUSION: Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.
Zina Almer; Victoria Vishnevskia-Dai; David Zadok
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Cornea     Volume:  22     ISSN:  0277-3740     ISO Abbreviation:  Cornea     Publication Date:  2003 May 
Date Detail:
Created Date:  2003-06-06     Completed Date:  2003-10-06     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8216186     Medline TA:  Cornea     Country:  United States    
Other Details:
Languages:  eng     Pagination:  389-90     Citation Subset:  IM    
Department of Opthalmology, Assaf Harofeh Medical Center, Zerifin, Israel.
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MeSH Terms
Brain Diseases / complications
Choristoma / complications
Developmental Disabilities / complications
Eye Diseases / complications
Infant, Newborn
Iris / abnormalities
Lipomatosis / complications,  congenital*
Neurocutaneous Syndromes / complications,  congenital*
Skin Diseases / complications
Spinal Cord Diseases / complications

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