Tucker syndrome
Tucker syndrome | |
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Other names | Ptosis-vocal cord paralysis syndrome |
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Specialty | Medical genetics |
Causes | Genetic mutation |
Prevention | none |
Prognosis | Medium to Bad |
Frequency | very rare, only 2 cases have been reported |
Deaths | - |
Tucker syndrome, also known as Ptosis-vocal cord paralysis syndrome, is a very rare genetic disorder which is characterized by congenital bilateral ptosis and (also congenital and bilateral) recurrent laryngeal nerve paresis.[1][2][3] Additional findings include short stature.[4] It was described in a small 2-generation family (a man and his daughter).[5][6]
References
[edit]- ^ "Orphanet: Ptosis vocal cord paralysis syndrome". www.orpha.net. Retrieved 2022-06-04.
- ^ "Tucker syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-04.
- ^ "Ptosis-vocal cord paralysis syndrome (Concept Id: C1860403) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-06-04.
- ^ "Tucker Syndrome". DoveMed. Retrieved 2022-06-04.
- ^ Tucker, H. M. (November 1983). "Congenital bilateral recurrent nerve paralysis and ptosis: a new syndrome?". The Laryngoscope. 93 (11 Pt 1): 1405–1407. doi:10.1288/00005537-198311000-00004. ISSN 0023-852X. PMID 6633110. S2CID 42727307.
- ^ "OMIM Entry - 193240 - Vocal Cord Paralysis and Ptosts". omim.org. Retrieved 2022-06-04.