Document Detail

Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.
MedLine Citation:
PMID:  15106076     Owner:  NLM     Status:  MEDLINE    
We present the morphological and biochemical findings in a twelve month old girl with chondrodysplasia punctata X2 - Conradi-Hünermann-Happle syndrome. This disease is characterized by limb length discrepancies, growth retardation, ichthyosis, cataracts, and punctate calcification. The diagnosis could finally be confirmed by increased concentrations of cholesterol precursors as recently found in the plasma and tissues of affected patients.
B Lindenthal; R Repgen; D Emons; M J Lentze; K von Bergmann; D Lütjohann
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Klinische Pädiatrie     Volume:  216     ISSN:  0300-8630     ISO Abbreviation:  Klin Padiatr     Publication Date:    2004 Mar-Apr
Date Detail:
Created Date:  2004-04-23     Completed Date:  2004-09-08     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  0326144     Medline TA:  Klin Padiatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  67-9     Citation Subset:  IM    
Abteilung für Klinische Pharmakologie, Universitätsklinikum Bonn.
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MeSH Terms
Cholestadienols / blood*
Cholestanol / blood*
Cholesterol / biosynthesis
Chondrodysplasia Punctata / blood,  diagnosis*,  genetics
Chromosomes, Human, X*
Diagnosis, Differential
Genes, Dominant / genetics*
Reference Values
Sex Chromosome Aberrations*
Sterols / blood*
Reg. No./Substance:
0/Cholestadienols; 0/Sterols; 57-88-5/Cholesterol; 70741-38-7/cholesta-5,8-dien-3 beta-ol; 80-97-7/Cholestanol

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