Document Detail


A phenotypic variant of Knobloch syndrome.
MedLine Citation:
PMID:  18484314     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Knobloch syndrome (KNO) is a rare autosomal recessive condition caused by pathogenic mutations in the COL18A1 gene. It is characterized by high myopia, vitreoretinal degeneration, retinal detachment and midline encephalocoele or midline occipital bone defect. We report a case of KNO confirmed by direct sequence analysis of the COL18A1 gene with typical ocular features, and previously unreported systemic features: occipital hair tuft with transient CSF leak and bilateral renal abnormalities. This case illustrates a new phenotypic variant of this syndrome.
Authors:
Theresa Anne Williams; Graham R Kirkby; Denise Williams; John R Ainsworth
Related Documents :
20949524 - Natural history of christianson syndrome.
872834 - The sc phocomelia and the roberts syndrome: nosologic aspects.
19248844 - Detection of chd7 deletions by mlpa in charge syndrome patients with a less typical phe...
10670894 - Crouzon syndrome with acanthosis nigricans: case report and mutational analysis.
12472544 - Kindler syndrome in a saudi kindred.
2689434 - Sensitization, kindling, and anticonvulsants in mania.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  29     ISSN:  1744-5094     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-05-19     Completed Date:  2008-07-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  85-6     Citation Subset:  IM    
Affiliation:
Birmingham and Midland Eye Centre, City Hospital, Birmingham, England. tawilli40@hotmail.com
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Collagen Type XVIII / genetics*
Encephalocele / genetics
Eye Diseases, Hereditary / genetics*
Genes, Recessive
Hair / abnormalities*
Humans
Infant
Kidney / abnormalities*
Male
Mutation / genetics
Myopia / genetics*
Phenotype
Retinal Degeneration / genetics*
Retinal Detachment / genetics
Syndrome
Chemical
Reg. No./Substance:
0/Collagen Type XVIII

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


Previous Document:  New recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in ...
Next Document:  Homosexually active men's views on criminal prosecutions for HIV transmission are related to HIV pre...