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Pierre Maroteaux
French paediatrician, born 1926, Versailles.
Associated eponyms:
Arkless-Graham syndrome
Congenital malformation syndrome with shortening of the knuckles of the legs and hands, mental retardation, and peculiar facies.
Koslowski's syndrome
Polish paediatric radiologist, born June 6, 1928, Poznan.
His name is also spelled Koslowsky.
Lamy-Maroteaux syndrome
A syndrome characterised by prenatal micromelic dwarfism, progressive kyphoscoliosis, multiple joint contractures, etc.
Maroeteaux-Lamy syndrome I
An uncommon disorder of mucopolysaccharide marked by dwarfism, hearing loss, and progressive skeletal deformity, etc.
Maroteaux's MEDTS syndrome
A syndrome of moderate dwarfism.
Maroteaux's syndrome I
A disease characterized mainly by swelling, redness, heat, and minimal pain, of the fingers and occasionally the toes, observed during the winter months in infants and children.
Maroteaux's syndrome II
Metaphyseal dysostosis limited to knees.
Maroteaux-Lamy syndrome II
A familial form of idiopathic osteolysis.
Maroteaux-Lamy syndrome III
A congenital disease of bone characterized by short-limbed dwarfism, a large skull with persistent fontanelle, and other anomalies.
Maroteaux-Lamy syndrome IV
A familial type of bone dysplasia with the principal symptoms ofshort-trunk dwarfism, back pain, pain in the hips, and limitation of joint movement.
Maroteaux-Spranger-Wiedemann syndrome
A disturbance evident at birth characterized in childhood by dwarfism with normal body length and disproportionately long trunk, especially thorax, and short limbs, narrow chest, prominent joints, limited joint movement.
Biography:
Pierre Maroteaux qualified in medicine at the University of Paris in 1952. He has devoted himself to medical genetics and became director of research at the National Centre of Scientific Research, Hôpital des Enfants Malades, Paris. He has made important contributions to syndromic delineation and the investigation of the physiopathology of chondrodysplasias. In 1993 Maroteaux received The Mauro Baschirotto Award, funded by the Mauro Baschirotto family and presented by the European Society of Human Genetics in recognition of individual achievement in human genetics.
Bibliography:
- Bone Disorders of Children.
Oxford Monographs of Medical Genetics, No 23.
- Les maladies osseuses de l'enfant. 1982.
- P. Maroteaux, M. Lamy:
Les formes pseudoachondroplastiques des dysplasies spondyloepiphysaires.
La presse médicale, Paris, 1959, 67: 383-386.
- A. Pierre-Kahn, J. F. Hirsch, D. Renier, J. Metzger, P. Maroteaux:
Hydrocephalus and achondroplasia. A study of 25 observations.
Child's Brain, 1980, 7:205-19
- F. Rousseau, J. Bonaventure, L. Legeai-Mallet, A. Pelet, J. M. Rozet, P. Maroteaux, M. LeMerrer, and A. Munnich:
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
Nature, London, 1994, 371: 252-254.
- C. Schrander-Stumpel C, S. van der Meer, C. de Die-Smulders, P. Meinecke, E. Rupprecht, P. Maroteaux, J. Schranders, J. P. Fryns:
Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients.
Genetic Counseling, 1996, 7: 71-72
- F. Rousseau, J. Bonaventure, L. Legeai-Mallet, A. Pelet, J. M. Rozet, P. Maroteaux, M. LeMerrer, and A. Munnich:
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
Hormone Research, 1996, 45:108-110.
- Laurence Legeai-Mallet, Patricia Margaritte-Jeannin, Mohamed Lemdani, M. Le Merrer, Henry Plauchu, Pierre Maroteaux, A. Munnich, Françoise Clerget-Darpoux:
An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.
Human Genetics, Berlin, 1997, Volume 99 Issue 3, pp 298-302
- Valérie Cormier-Daire, A. Munnich, Stanislas Lyonnet, Pierre Rustin, Anne-Lise Delezoide, Pierre Maroteaux, Martine Le Merrer:
Presentation of six cases of Stüve-Wiedemann syndrome.
Pediatric Radiology, Berlin, 1998, Volume 28 Issue 10, pp 776-780.
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