|
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
|
|
|
Wolf-Hirschhorn syndrome (Ulrich Wolf)
Also known as:
Wolf’s syndrome (Ulrich Wolf)
Synonyms:
Chromosome 4p deletion syndrome, 4 p deletion syndrome, 4p syndrome, del(4p) syndrome, monosomy 4 p, partial deletion chromosome 4 syndrome, partial monosomy 4 p.
Associated persons:
Kurt Hirschhorn
Ulrich Wolf
Description:
A congenital syndrome of mental and physical retardation. Multiple abnormalities include microcephaly, characteristic facies with micrognathy, and often cardiac malformations. A low birth weight, hypotonia, and seizures are usually present at birth. Caused by deletion of the short arm of chromosome 4. Life expectancy is low, about one third of all affected infants dying within the first two years of life.
Bibliography:
- K. Hirschhorn, H. L. Cooper:
Apparent deletion of short arms of one chromosome (4 or 5) in child with defects of midline fusion.
Human Chromosome Newsletter, 1961, 4: 14.
- J. B. Sidbury, R. D. Schmickel, M. Gray:
Findings in a patient with apparent deletion of short arms on one of the B group chromosomes. Journal of Pediatrics, St. Louis, 1964; 65: 1098.
- U. Wolf, , R. Porsch, H. Baitsch, H. Reinwein:
Deletion on short arms of a B-chromosome without "cri du chat" syndrome.
The Lancet, April 3, 1965, I: 769.
- U. Wolf, H. Reinwein, R. Porsch, R. Schröter, H. Baitsch:
Defiziens an den kurzen Armen eines Chromosoms Nr. 4.
Humangenetik, Berlin, 1965, 1: 397-413.
- K. Hirschhorn, H. L. Cooper, I. L. Firschein:
Deletion of short arms of chromosome 4-5 in a child defects of midline fusion.
Humangenetik, Berlin, 1965, 1: 479-482.
- K. Hirschhorn:
A short history of the initial discovery of the Wolf-Hirschhorn syndrome.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, November 15, 2008, 148C (4): 244-245.
|
|
|
