Andersen's syndrome (Ellen Damgaard Andersen)
Related people
Andersen Syndrome is a variant of Long QT syndrome associated with clinical manifestations that include periodic paralysis, prolongation of the QT interval with ventricular arrhythmias, and characteristic physical features including low-set ears, micrognathia, and clinodactyly.
The syndrome is inherited as an autosomal dominant trait, although many cases are sporadic.
Andersen et al reported the case of a 8-years old with short stature, hypertelorism, broad nasal root, and defect of soft and hard palate.
We thank Jørgen K. Kanters for information submitted.
Bibliography
- E. D. Andersen, P. A. Krasilnikoff, H. Overad:
Intermittent muscular weakness, extrasystoles and multiple developmental abnormalities: a new syndrome?
Acta paediatrica Scandinavica, Stockholm, 1971, 60: 559–564. - R. Tawil, L. J. Ptacek, S. G. Pavlakis, D. C. DeVivo, A. S. Penn, C. Ozdemir, R. C. Griggs:
Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.
Annals of Neurology, March 1994, 35 (3): 326-330. - V. Sansone, R. C. Griggs, G. Meola, L. J. Ptacek, R. Barohn, S. Iannaccone, W. Bryan, N. Baker, S. J. Janas, W. Scott, D. Ririe, R. Tawil:
Andersen's syndrome: a distinct periodic paralysis.
Annals of Neurology, September 1997, 42 (3): 305-312. - N. M. Plaster, R. Tawil, M. Tristani-Firouzi, et al:
Mutations in Kiru.1 Cause the Developnental and Episodic Electric l Phentoypes in Andersen's Syndrome.
Cell, Cambridge, Massachusetts, May 18, 2001, 105, 511-519. - M. Tristani-Firouzi, J. L. Jensen, M. R. Donaldson, V. Sansone, G. Meola, A. Hahn, S. Bendahhou, H. Kwiecinski, A. Fidzianska, N. Plaster, Y. H. Fu, L. J. Ptacek, R. Tawil:
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
The Journal of Clinical Investigation, New York, 2002, 110: 381-388.
Martin Tristani-Firouzi et al recognized the condition as a form om Long QT syndrome.