Document Detail

Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies.
MedLine Citation:
PMID:  9677068     Owner:  NLM     Status:  MEDLINE    
We report on two sibs with high myopia, vitreoretinal degeneration (VRD), and occipital encephalocoele or scalp lesion. We review the literature on Knobloch syndrome, discuss possible causes, and suggest a possible involvement of mesoderm in the morphogenesis. One case presents with very early onset of severe eye disease, whereas the other is notable for the very mild scalp defect. In addition, both appear to have an unusual pulmonary lymphatic condition.
C Wilson; S Aftimos; A Pereira; R McKay
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  78     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1998 Jul 
Date Detail:
Created Date:  1998-09-23     Completed Date:  1998-09-23     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  286-90     Citation Subset:  IM    
Northern Regional Genetics Service, Starship Children's Hospital, Auckland, New Zealand.
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MeSH Terms
Abnormalities, Multiple / genetics*
Encephalocele / genetics*
Eye Abnormalities / pathology
Infant, Newborn
Lung / abnormalities
Lymphatic System / abnormalities
Myopia / genetics*
Nuclear Family
Retinal Degeneration / genetics*
Scalp / abnormalities

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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