Microcornea, glaucoma, and absent frontal sinuses explained
| Microcornea, glaucoma, and absent frontal sinuses |
| Risk: | --> |
| Prevention: | none |
| Management: | --> |
| 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]
Notes and References
- Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Microcornea glaucoma absent frontal sinuses syndrome . 2022-06-08 . www.orpha.net . en.
- Web site: Microcornea, glaucoma, and absent frontal sinuses - About the Disease - Genetic and Rare Diseases Information Center . 2022-06-08 . rarediseases.info.nih.gov . en.
- Holmes . Lewis B. . Walton . David S. . 1969-06-01 . Hereditary microcornea, glaucoma, and absent frontal sinuses: A family study . The Journal of Pediatrics . en . 74 . 6 . 968–972 . 10.1016/S0022-3476(69)80236-2 . 5781804 . 0022-3476.
- Web site: OMIM Entry - 156700 - MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES . 2022-06-08 . omim.org . en-us.
- 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 . 10.1016/s0022-3476(69)80236-2 . 0022-3476 . 5781804.
