 Septo-Optic Dysplasia
"Septo-Optic 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 condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.
| Descriptor ID |
D025962
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| MeSH Number(s) |
C10.500.840 C16.131.666.845
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| Concept/Terms |
Septo-Optic Dysplasia- Septo-Optic Dysplasia
- Septo-Optic Dysplasia with Growth Hormone Deficiency
- Septo Optic Dysplasia with Growth Hormone Deficiency
- De Morsier Syndrome
- Syndrome, De Morsier
- Septooptic Dysplasia
- Dysplasia, Septooptic
- Dysplasias, Septooptic
- Septooptic Dysplasias
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Below are MeSH descriptors whose meaning is more general than "Septo-Optic Dysplasia".
Below are MeSH descriptors whose meaning is more specific than "Septo-Optic Dysplasia".
This graph shows the total number of publications written about "Septo-Optic Dysplasia" by people in this website by year, and whether "Septo-Optic Dysplasia" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 | | 2011 | 0 | 1 | 1 | | 2019 | 1 | 0 | 1 | | 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Septo-Optic Dysplasia" by people in Profiles.
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Zhao J, Longo N, Lewis RG, Nicholas TJ, Boyden SE, Andrews A, Larson A, Bayrak-Toydemir P, Botto LD, Mao R. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing. Am J Med Genet A. 2024 05; 194(5):e63516.
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Herrmann BW, Hathaway CR, Fadell M. Hearing Loss in Pediatric Septo-Optic Dysplasia. Ann Otol Rhinol Laryngol. 2019 Jun; 128(6):485-489.
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McCabe MJ, Gaston-Massuet C, Tziaferi V, Gregory LC, Alatzoglou KS, Signore M, Puelles E, Gerrelli D, Farooqi IS, Raza J, Walker J, Kavanaugh SI, Tsai PS, Pitteloud N, Martinez-Barbera JP, Dattani MT. Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. J Clin Endocrinol Metab. 2011 Oct; 96(10):E1709-18.
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Brooks DB, Subramanian PS. Monocular temporal hemianopia with septo-optic dysplasia. J Neuroophthalmol. 2006 Sep; 26(3):195-6.
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