"Chondrodysplasia Punctata" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
- Chondrodysplasia Punctata
- Stippled Epiphyses
- Epiphyses, Stippled
- Chondrodystrophia Calcificans Congenita
- Dysplasia Epiphysialis Punctata
- Hunermann-Conradi Syndrome
- Hunermann Conradi Syndrome
- Syndrome, Hunermann-Conradi
- Happle Syndrome
- Syndrome, Happle
- Conradi-Hunermann Syndrome
- Conradi Hunermann Syndrome
- Syndrome, Conradi-Hunermann
- Conradi-Hunermann-Happle Syndrome
- Conradi Hunermann Happle Syndrome
Below are MeSH descriptors whose meaning is more general than "Chondrodysplasia Punctata".
Below are MeSH descriptors whose meaning is more specific than "Chondrodysplasia Punctata".
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Below are the most recent publications written about "Chondrodysplasia Punctata" by people in Profiles.