"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
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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
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Concept/Terms |
Thanatophoric Dysplasia- Thanatophoric Dysplasia
- Dysplasia, Thanatophoric
- Dysplasias, Thanatophoric
- Thanatophoric Dysplasias
- Thanatophoric Short Stature
- Dwarfism, Thanatophoric
- Dwarfisms, Thanatophoric
- Thanatophoric Dwarfisms
- Thanatophoric Dwarfism
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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 |
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2005 | 1 | 0 | 1 |
2019 | 0 | 1 | 1 |
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Below are the most recent publications written about "Thanatophoric Dysplasia" by people in Profiles.
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Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447.
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Dichorionic twins discordant for thanatophoric dysplasia managed with selective reduction at 20 weeks' gestation: a case report. J Reprod Med. 2005 Aug; 50(8):638-42.