|
Disclaimer:
Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
|
A recommendation:
Hypography is an open community about science and all things related
|
|
|
Pallister's mosaicism syndrome
Also known as:
Killian’s syndrome
Killian-Pallister syndrome (Wolfgang Killian)
Teschler-Nicola syndrome
Pallister's syndrome
Pallister's tetrasomy syndrome
Pallister-Killian syndrome
Pallister-Teschler-Nicola and Killian syndrome
Teschler-Nicola's syndrome
Teschler-Nicola and Killian syndrome
Teschler-Nicola and Killian-Pallister syndrome
Associated persons:
Wolfgang Killian
Philip David Pallister
Maria Teschler-Nicola
Description:
Tetrasomy of the short arm of chromosome 12. Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation.
Bibliography:
- P. D. Pallister, L. F. Meissner, B. R. Elejade, et al:
The Pallister mosaic syndrome.
Birth Defects Original Article Series, New York, 1977, 13(3b): 103-110.
- W. Killian, M. Teschler-Nicola:
Case report 72: Mental retardation, unusual facial appearance, abnormal hair.
Syndrome Identification, 1981, 7: 6-7.
|
|
|
