Andersen-Tawil syndrome historical perspective: Difference between revisions
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==Overview== | ==Overview== | ||
It is named for Ellen | It is named for Ellen Andersenand R. Tawil. | ||
== Historical Perspective == | == Historical Perspective == | ||
* In 1971, Ellen Andersen et al was the first to report the symptoms of the syndrome which includes short stature, hypertelorism, broad nasal root, mandibular hypoplasia, scaphocephaly, and clinodactyly in an 8 year old boy. | * In 1971, Ellen Andersen et al was the first to report the symptoms of the syndrome which includes short stature, hypertelorism, broad nasal root, mandibular hypoplasia, scaphocephaly, and clinodactyly in an 8 year old boy.<ref>{{cite journal |author=Andersen ED, Krasilnikoff PA, Overvad H |title=Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? |journal=Acta paediatrica Scandinavica |volume=60 |issue=5 |pages=559-64 |year=1971 |pmid=4106724|doi=}}</ref><ref name="pmid8080508">{{cite journal |author=Tawil R, Ptacek LJ, Pavlakis SG, ''et al'' |title=Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features |journal=Ann. Neurol. |volume=35 |issue=3 |pages=326-30 |year=1994|pmid=8080508|doi=10.1002/ana.410350313}}</ref> | ||
*In 1976, Stubbs described bidirectional ventricular tachycardia in a women. | *In 1976, Stubbs described bidirectional ventricular tachycardia in a women. | ||
*In 1977, Sansone et al reported the symptoms of periodic paralysis, ventricular arrhythmia in a patient. | *In 1977, Sansone et al reported the symptoms of periodic paralysis, ventricular arrhythmia in a patient. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
It is named for Ellen Andersenand R. Tawil.
Historical Perspective
- In 1971, Ellen Andersen et al was the first to report the symptoms of the syndrome which includes short stature, hypertelorism, broad nasal root, mandibular hypoplasia, scaphocephaly, and clinodactyly in an 8 year old boy.[1][2]
- In 1976, Stubbs described bidirectional ventricular tachycardia in a women.
- In 1977, Sansone et al reported the symptoms of periodic paralysis, ventricular arrhythmia in a patient.
- In 1994, Tawil gave the name Andersen syndrome for a clinical triad which consists of periodic paralysis, ventricular ectopy, and dysmorphic features.
- In 1994, Tawil made a significant contributions to the understanding that Andersen's syndrome is different from other long QT syndrome demonstrating lack of genetic linkage.[3]
- In 2002, Andelfinger et al identified missense mutation in KCNJ2 gene were first implicated in the pathogenesis of Andersen-Tawil syndrome.
References
- ↑ Andersen ED, Krasilnikoff PA, Overvad H (1971). "Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?". Acta paediatrica Scandinavica. 60 (5): 559–64. PMID 4106724.
- ↑ Tawil R, Ptacek LJ, Pavlakis SG; et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann. Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.
- ↑ Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C; et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.