"Thanatophoric Dysplasia" 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 severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
| Descriptor ID |
D013796
|
| MeSH Number(s) |
C05.116.099.343.110.500 C05.116.099.708.017.500 C05.660.585.984 C16.131.621.585.984 C16.320.240.500.500 C16.614.890
|
| Concept/Terms |
Thanatophoric Dysplasia- Thanatophoric Dysplasia
- Dysplasia, Thanatophoric
- Dysplasias, Thanatophoric
- Thanatophoric Dysplasias
- Thanatophoric Short Stature
- Dwarfism, Thanatophoric
- Dwarfisms, Thanatophoric
- Thanatophoric Dwarfisms
- Thanatophoric Dwarfism
|
Below are MeSH descriptors whose meaning is more general than "Thanatophoric Dysplasia".
Below are MeSH descriptors whose meaning is more specific than "Thanatophoric Dysplasia".
This graph shows the total number of publications written about "Thanatophoric Dysplasia" by people in this website by year, and whether "Thanatophoric Dysplasia" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 0 | 1 | 1 |
| 2014 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Thanatophoric Dysplasia" by people in Profiles.
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Carroll RS, Olney RC, Duker AL, Coghlan RF, Mackenzie WG, Ditro CP, Brown CJ, O'Connell DA, Horton WA, Johnstone B, Espiner EA, Prickett TCR, Bober MB. Collagen X Marker Levels are Decreased in Individuals with Achondroplasia. Calcif Tissue Int. 2022 07; 111(1):66-72.
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Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB. C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. J Clin Endocrinol Metab. 2015 Feb; 100(2):E355-9.
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Beuke L, Koduri P, Martinez F, Weiner S. Stippling: a first trimester marker for thanatophoric dysplasia type I. Prenat Diagn. 2010 Dec; 30(12-13):1220-1.