Sökning: "hypochondroplasia"

Hittade 2 avhandlingar innehållade ordet hypochondroplasia.

  1. 1. Clinical and genetic investigation of hypochondroplasia and dyschondrosteosis

    Författare :Giedre Grigelioniene; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Linear body growth is a multifactorial trait influenced by many environmental and intrinsic factors. Among the intrinsic determinants of body height, genetic and endocrine factors are considered to be the most important. LÄS MER

  3. 2. Metacarpophalangeal pattern profile analysis in hypochondroplasia, dyschondrosteosis and Turner syndrome

    Författare :Evaldas Laurencikas; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Metacarpophalangeal pattern profile MCPP ; hypochondroplasia; Leri-Weill dyschondrosteosis; Turner syndrome; Discriminant analysis; short stature.;

    Sammanfattning : The skeletal system, including the hand skeleton, is affected by a large number of skeletal dysplasias. Clinical and radiological abnormalities of the skeletal system in hypochondroplasia (HCP), dyschondrosteosis (LWD) and Turner syndrome (TS) may be rather subtle and difficult to recognize, particularly in young individuals, which can lead to an unnecessary delay of the diagnosis. LÄS MER