Chondrodysplasia Punctata
"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.
Descriptor ID |
D002806
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MeSH Number(s) |
C05.116.099.708.195
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Concept/Terms |
Chondrodysplasia Punctata- Chondrodysplasia Punctata
- Stippled Epiphyses
- Epiphyses, Stippled
- Chondrodystrophia Calcificans Congenita
- Dysplasia Epiphysialis Punctata
Hunermann-Conradi Syndrome- Hunermann-Conradi Syndrome
- Hunermann Conradi Syndrome
- Conradi-Hunermann Syndrome
- Conradi Hunermann Syndrome
- Conradi Hunermann Happle Syndrome
- Happle Syndrome
- X-Linked Dominant Chondrodysplasia Punctata
- X Linked Dominant Chondrodysplasia Punctata
- X-Linked Chondrodysplasia Punctata 2
- X Linked Chondrodysplasia Punctata 2
- Chondrodysplasia Punctata 2, X-Linked
- Chondrodysplasia Punctata 2, X Linked
- Conradi-Hünermann Syndrome
- Conradi Hünermann Syndrome
- Conradi-Hünermann Syndromes
- Conradi-Hünermann-Happle Syndrome
- Conradi Hünermann Happle Syndrome
- Conradi-Hünermann-Happle Syndromes
- Chondrodysplasia Punctata 2, X-Linked Dominant
- Chondrodysplasia Punctata 2, X Linked Dominant
- Conradi-Hunermann-Happle Syndrome
- Conradi-Hunermann-Happle Syndromes
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Below are MeSH descriptors whose meaning is more general than "Chondrodysplasia Punctata".
Below are MeSH descriptors whose meaning is more specific than "Chondrodysplasia Punctata".
This graph shows the total number of publications written about "Chondrodysplasia Punctata" by people in this website by year, and whether "Chondrodysplasia Punctata" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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1995 | 2 | 0 | 2 |
1996 | 1 | 0 | 1 |
1997 | 1 | 0 | 1 |
1998 | 1 | 0 | 1 |
2003 | 1 | 0 | 1 |
2004 | 0 | 1 | 1 |
2015 | 1 | 0 | 1 |
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Below are the most recent publications written about "Chondrodysplasia Punctata" by people in Profiles.
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Adult presentation of X-linked Conradi-H?nermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14.
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A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2. Am J Med Genet A. 2014 Jul; 164A(7):1642-7.
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Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency? Am J Med Genet A. 2007 Jan 15; 143A(2):200-4.
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Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. Gene. 2004 Jul 21; 336(2):155-61.
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X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med Genet A. 2003 Mar 01; 117A(2):164-8.
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Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Am J Hum Genet. 1998 Mar; 62(3):562-72.
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X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. Am J Med Genet. 1997 Dec 12; 73(2):139-43.
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A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28. Genome Res. 1996 Jun; 6(6):465-77.
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A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 1995 Apr 07; 81(1):15-25.
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High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). Genomics. 1995 Mar 20; 26(2):229-38.