Pierre Maroteaux

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.

• Les maladies osseuses de l'enfant.
  With Clement Fauré, Claude Fessard and Pierre Rigault.
  Foreword by Maurice Lamy.
  In the series: Flammarion médecine-sciences.
  1974. 1982. 3rd edition, 619 pages, 1995.
  4th edition, 482 pages, by Pierre Maroteaux and Martine Le Merrer. 2002.
• Bone diseases of children.
  With Clement Fauré, Claude Fessard and Pierre Rigault.
  A translation of: Les maladies osseuses de l'enfant.
  Translated and adopted by Herbert J. Kaufmann.
  Philadelphia : Lippincott, 1979, 17 + 435 pages.
• Les formes pseudoachondroplastiques des dysplasies spondyloepiphysaires.
  P. Maroteaux, M. Lamy.
  La presse médicale, Paris, 1959, 67: 383-386.
• Hydrocephalus and achondroplasia. A study of 25 observations.
  A. Pierre-Kahn, J. F. Hirsch, D. Renier, J. Metzger, P. Maroteaux.
  Child's Brain, 1980, 7: 205-19
• Bone Disorders of Children.
  Oxford Monographs of Medical Genetics, No 23, 1993.
• Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
  F. Rousseau, J. Bonaventure, L. Legeai-Mallet, A. Pelet, J. M. Rozet, P. Maroteaux, M. LeMerrer, and A. Munnich.
  Nature, London, 1994, 371: 252-254.
• Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients.
  C. Schrander-Stumpel C, S. van der Meer, C. de Die-Smulders, P. Meinecke, E. Rupprecht, P. Maroteaux, J. Schranders, J. P. Fryns.
  Genetic Counseling, 1996, 7: 71-72
• Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
  F. Rousseau, J. Bonaventure, L. Legeai-Mallet, A. Pelet, J. M. Rozet, P. Maroteaux, M. LeMerrer, and A. Munnich,.
  Hormone Research, 1996, 45:108-110.
• An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.
  Laurence Legeai-Mallet, Patricia Margaritte-Jeannin, Mohamed Lemdani, M. Le Merrer, Henry Plauchu, Pierre Maroteaux, A. Munnich, Françoise Clerget-Darpoux.
  Human Genetics, Berlin, 1997, Volume 99 Issue 3, pp 298-302.
• Presentation of six cases of Stüve-Wiedemann syndrome.
  Valérie Cormier-Daire, A. Munnich, Stanislas Lyonnet, Pierre Rustin, Anne-Lise Delezoide, Pierre Maroteaux, Martine Le Merrer.
  Pediatric Radiology, Berlin, 1998, Volume 28 Issue 10, pp 776-780.