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Jean-Pierre Fryns
Belgian human geneticist, born 1946.
Associated eponyms:
Fryns' syndrome
A rare, potentially lethal malformation complex syndrome with the characteristic congenital triad of malformations: corneal clouding, hypoplasia of the distal extremities, and diaphragm defects.
Fryns-Van den Berghe syndrome
A familial syndrome of mental and somatic retardation with Peters' anomaly, corneal clouding, hypoplastic facies, subvalvular aortic stenosis, and skeletal abnormalities.
Lujan-Fryns syndrome
A syndrome marked by marfanoid habitus associated with mental retardation.
Biography:
Jean-Pierre Fryns studied medicine at the Catholic University of Leuven. He trained in paediatrics and in 1976 became head of the Clinical Genetics Unit at the University Hospital Gasthuisberg, Leuven. Fryns is (2006) the president of the Belgian group for the Scientific Study of Mental Deficiency.
Bibliography:
- J. P. Fryns, W. Coeck, H. van den Berghe:
The Greig polysyndactyly-craniofacial dysmorphism syndrome.
European Journal of Pediatrics, Berlin, November 4, 1977, 126 (4): 283-287
- J. P. Fryns, R. Maertens, H. van den Berghe:
Osteodysplastia – a rare skeletal dysplasia.
Acta paediatrica Belgica, Bruxelles, 1979, 32: 65.
- J. P. Fryns, G. Van Noyen, H. van den Berghe
The Greig polysyndactyly craniofacial dysmorphism syndrome: Variable expression in a family. European Journal of Pediatrics, May 1981, 136 (2): 217-220.
- J. P. Fryns:
Le syndrome de Greig: Une polysyndactylie variable associée a une dysmorphie craniofaciale distincte.
Journal de Génétique Humaine, Geneva, 1982, 30 (Supplement 5): 403-408
- J. P. Fryns:
The Prader-Willi syndrome and the Sotos syndrome: Syndromes of sequences.
Clinical Genetics, Copenhagen, 1988, 33: 457-458. Letter.
- J. P. Fryns, A. Schinzel, H. van den Berghe:
Hyperlaxity in males with Melnick-Needles syndrome.
American Journal of Medical Genetics, New York, 1988, 29: 609-611.
- J. P. Fryns:
Aarskog syndrome: The changing phenotype with age.
American Journal of Human Genetics, Chicago, 1992, 43: 420-427.
- J. P. Fryns, H. van den Berghe, C. Schrander-Stumpel:
- Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4.
American Journal of Medical Genetics, 1994, November 1, 53 (2): 204-205.
Biographical:
- Peter Beighton & Gretha Beighton:
The Person Behind the Syndrome. Springer-Verlag London Limited, 1997.
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