Microcornea, glaucoma, and absent frontal sinuses
| 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
[edit]- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Microcornea glaucoma absent frontal sinuses syndrome". www.orpha.net. Retrieved 2022-06-08.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Microcornea, glaucoma, and absent frontal sinuses - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-08.
- ^ Holmes, Lewis B.; Walton, David S. (1969-06-01). "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.
- ^ "OMIM Entry - 156700 - MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES". omim.org. Retrieved 2022-06-08.
- ^ 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.
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