"Pierre Robin Syndrome" 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.
Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.
| Descriptor ID |
D010855
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| MeSH Number(s) |
C05.500.460.606 C05.660.207.540.460.606 C07.320.440.606 C07.650.500.460.606 C16.131.621.207.540.460.606 C16.131.850.500.460.606
|
| Concept/Terms |
Pierre Robin Syndrome- Pierre Robin Syndrome
- Robin Syndrome, Pierre
- Syndrome, Pierre Robin
- Robin Sequence
- Sequence, Robin
- Pierre Robin's Sequence
- Pierre Robins Sequence
- Sequence, Pierre Robin's
- Pierre-Robin Syndrome
- Syndrome, Pierre-Robin
- Glossoptosis, Micrognathia, and Cleft Palate
- Pierre Robin Sequence
- Sequence, Pierre Robin
|
Below are MeSH descriptors whose meaning is more general than "Pierre Robin Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Pierre Robin Syndrome".
This graph shows the total number of publications written about "Pierre Robin Syndrome" by people in this website by year, and whether "Pierre Robin Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2016 | 0 | 1 | 1 |
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Pierre Robin Syndrome" by people in Profiles.
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Genetics of craniofacial malformations. Semin Fetal Neonatal Med. 2021 12; 26(6):101290.
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Ablation of the Sox11 Gene Results in Clefting of the Secondary Palate Resembling the Pierre Robin Sequence. J Biol Chem. 2016 Mar 25; 291(13):7107-18.
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Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. Am J Hum Genet. 2014 Dec 04; 95(6):763-70.
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Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Mol Med. 2013 Sep; 5(9):1431-42.
MeSH information
