"Cleidocranial 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.
Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.
| Descriptor ID |
D002973
|
| MeSH Number(s) |
C05.116.099.708.207 C05.660.207.207 C16.131.621.207.207
|
| Concept/Terms |
Cleidocranial Dysplasia- Cleidocranial Dysplasia
- Cleidocranial Dysplasias
- Dysplasia, Cleidocranial
- Dysplasias, Cleidocranial
- Cleidocranial Digital Dysostosis
- Cleidocranial Digital Dysostoses
- Dysostoses, Cleidocranial Digital
- Dysostosis, Cleidocranial Digital
- Marie-Sainton Syndrome
- Marie Sainton Syndrome
- Syndrome, Marie-Sainton
- Scheuthauer-Marie-Sainton Syndrome
- Scheuthauer Marie Sainton Syndrome
- Syndrome, Scheuthauer-Marie-Sainton
- Cleidocranial Dysostosis
- Cleidocranial Dysostoses
- Dysostoses, Cleidocranial
- Dysostosis, Cleidocranial
|
Below are MeSH descriptors whose meaning is more general than "Cleidocranial Dysplasia".
Below are MeSH descriptors whose meaning is more specific than "Cleidocranial Dysplasia".
This graph shows the total number of publications written about "Cleidocranial Dysplasia" by people in this website by year, and whether "Cleidocranial Dysplasia" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 |
| 2008 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
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Below are the most recent publications written about "Cleidocranial Dysplasia" by people in Profiles.
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Yunis-Var?n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet. 2013 May 02; 92(5):781-91.
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De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia. Am J Med Genet A. 2008 Feb 15; 146A(4):453-8.
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Three-dimensional ultrasound in the prenatal diagnosis of cleidocranial dysplasia associated with B-cell immunodeficiency. Ultrasound Obstet Gynecol. 2006 May; 27(5):574-9.
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Cleido-cranial dysostosis--skeletal abnormalities. Australas Radiol. 1992 Aug; 36(3):238-42.
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Management of a mandibular fracture in a patient with cleidocranial dysplasia: report of a case and review of the literature. J Oral Maxillofac Surg. 1991 Apr; 49(4):405-9.