|
1 / 1
|
DeCS
|
|
 |
|
Descriptor English:
|
|
Chondrodysplasia Punctata
|
|
Descriptor Spanish:
|
|
Condrodisplasia Punctata
|
|
Descriptor Portuguese:
|
|
Condrodisplasia Punctata
|
|
Synonyms English:
|
|
Chondrodystrophia Calcificans Congenita
Stippled Epiphyses
Dysplasia Epiphysialis Punctata
Epiphyses, Stippled
Conradi-Hunermann Syndrome
|
|
Tree Number:
|
|
C05.116.099.708.195
|
|
Definition English:
|
|
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. |
|
Indexing Annotation English:
|
|
spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
|
|
History Note English:
|
|
85; was CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1964-84 (Prov 1964-66)
|
|
Allowable Qualifiers English:
|
|
|
|
Record Number:
|
|
2856
|
|
Unique Identifier:
|
|
D002806
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS SciELO LILACS LIS
|