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 |
|---|
| 1998 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2014 | 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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Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A. 2014 Apr; 164A(4):1062-8.
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Challenges of spine surgery in patients with chondrodysplasia punctata. J Pediatr Orthop. 2013 Oct-Nov; 33(7):685-93.
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Chondrodysplasia punctata associated with malabsorption from bariatric procedures. Surg Obes Relat Dis. 2010 Jan-Feb; 6(1):99-101.
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Unique cardiac and cerebral anomalies with chondrodysplasia punctata. Am J Med Genet. 1998 Jan 06; 75(1):59-61.
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Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967 Feb; 27(2):279-94.