title: Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.
abstract: 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.
authors.affiliation: Abteilung für Klinische Pharmakologie, Universitätsklinikum Bonn.
authors.forename: B
authors.initials: B
authors.lastname: Lindenthal
authors.forename: R
authors.initials: R
authors.lastname: Repgen
authors.forename: D
authors.initials: D
authors.lastname: Emons
authors.forename: M J
authors.initials: MJ
authors.lastname: Lentze
authors.forename: K
authors.initials: K
authors.lastname: von Bergmann
authors.forename: D
authors.initials: D
authors.lastname: Lütjohann
mesh_terms: D002775:Cholestadienols / Q000097:blood*; D004083:Cholestanol / Q000097:blood*; D002784:Cholesterol / Q000096:biosynthesis; D002806:Chondrodysplasia Punctata / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D041321:Chromosomes, Human, X; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D010641:Phenotype; D012016:Reference Values; D012729:Sex Chromosome Aberrations; D013261:Sterols / Q000097:blood*
chemical_list: D002775:Cholestadienols; D013261:Sterols; C026359:cholesta-5,8-dien-3 beta-ol; D004083:Cholestanol; D002784:Cholesterol