Medicine:Microcornea, glaucoma, and absent frontal sinuses
From HandWiki
| Microcornea, glaucoma, and absent frontal sinuses | |
|---|---|
| Specialty | Medical genetics, Ophthalmology |
| Causes | Genetic mutation |
| Prevention | none |
| Prognosis | Good |
| Frequency | very rare, only 4 cases have been described in medical literature |
| Deaths | - |
Microcornea, glaucoma, and absent frontal sinuses is a very rare developmental genetic disorder that occurs during embryogenesis which is characterized by a combination of microcornea, glaucoma and missing/underdeveloped sinuses. Additional findings include increased palmar skin thickness and torus palatinus.[1][2] It has been described in four members of a 3-generation family from Boston, Massachusetts (1969).[3][4][5]
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Microcornea glaucoma absent frontal sinuses syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2536.
- ↑ "Microcornea, glaucoma, and absent frontal sinuses - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/3637/microcornea-glaucoma-and-absent-frontal-sinuses.
- ↑ Holmes, Lewis B.; Walton, David S. (1969-06-01). "Hereditary microcornea, glaucoma, and absent frontal sinuses: A family study" (in en). The Journal of Pediatrics 74 (6): 968–972. doi:10.1016/S0022-3476(69)80236-2. ISSN 0022-3476. PMID 5781804. https://www.sciencedirect.com/science/article/pii/S0022347669802362.
- ↑ "OMIM Entry - 156700 - MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES" (in en-us). https://omim.org/entry/156700#1.
- ↑ Holmes, L. B.; Walton, D. S. (June 1969). "Hereditary microcornea, glaucoma, and absent frontal sinuses: a family study". The Journal of Pediatrics 74 (6): 968–972. doi:10.1016/s0022-3476(69)80236-2. ISSN 0022-3476. PMID 5781804. https://pubmed.ncbi.nlm.nih.gov/5781804/.
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