John Marius Opitz

John Marius Opitz is (2001) a physician and researcher of international stature, with a career spanning more than thirty years. He was born in Germany in 1935 and moved to the USA in 1950. He studied medicine at the University of Iowa and graduated in 1959. After training in paediatrics he obtained special experience in clinical genetics with the paediatrician and dysmorphologist David W. Smith (1926-1981) and cytogenetics with the human geneticist Klaus Patau, who was also born in Germany.

Opitz was one of the first physicians to recognize and correlate specific groupings of paediatric anomalies with heredity. In addition to his landmark work in hereditary kidney disease and endocrine factors in carbohydrate metabolism, Dr. Opitz was on the research team that produced the first successful immunologic assay of human growth hormone. He has served as Editor-in-Chief for the Journal of Medical Genetics since 1976, and was a founding member of the American Board of Medical Genetics. As Professor of Pediatrics and Human Genetics at Primary Children's Hospital and Adjunct Professor for the Division of Reproductive Genetics at the University of Utah, Opitz receives patient referrals from not only the Intermountain region, but from all around the world. He has undertaken extensive research in dysmorphology and has published extensively in this field.

Opitz is presently with the Primary Children's Medical Center Salt Lake City, concentrating on clinical genetics, especially those genetic factors influencing mental retardation, abnormalities of sex determination and sex differentiation, and skeletal dysplasias. Apart from his medical activities he is interested in natural history and the history of biology and music.

• J. M. Opitz, P. D. Pallister:
  Brief historical note: the concept of gonadal dysgenesis.
  American Journal of Medical Genetics, New York, 1979, 4: 333-343.
• J.M. Opitz, D.D. Weaver:
  Editorial comment: The neurofibromatosis-Noonan syndrome.
  American Journal of Medical Genetics, New York, 1985, 21: 477-90.
  Watson's syndrome.
• J. M. Opitz:
  The Noonan syndrome (editorial).
  American Journal of Medical Genetics, New York, 1985, 21: 515-518.
• H. M. M. Mendez, J. M. Opitz:
  Noonan syndrome: a review.
  American Journal of Medical Genetics, New York, 1985, 21: 493-506.
• R. Rizzo, V. Pavone, G. Corsello, G. Sorge, G. Neri, J. M. Opitz:
  Autosomal dominant and sporadic radio-ulnar synostosis.
  American Journal of Medical Genetics. January 20, 1997, 68(2): 127-134.
• G. Sorge, L. Pavone, A. Polizzi, L. Mauceri, R. M. Leonardi, T. Tripi, J. M. Opitz:
  Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family.
  American Journal of Medical Genetics. April 14, 1997, 69(4): 388-394.
• L. Pavone, G. Sorge, V. Pavone, R. Rizzo, M. Ruggieri, A. Polizzi, J. M. Opitz:
  Familial broad terminal phalanges with one individual showing additional anomalies. American Journal of Medical Genetics. August 22, 1997, 71(3): 271-274.
• N. A. Quaderi, S. Schweiger, K. Gaudenz, B. Franco, E. I. Rugarli, W. Berger, G. J. Feldman, M. Volta, G. Andolfi, S. Gilgenkrantz, R. W. Marion, R. C. Hennekam, J. M. Opitz, M. Muenke, H. H. Ropers, A. Ballabio:
  Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.
  Nature Genetics. November 1997, 17(3): 285-291.
• L. V. Beloussov, J. M. Opitz, S. F. Gilbert:
  Life of Alexander G. Gurwitsch and his relevant contribution to the theory of morphogenetic fields.
  International Journal of Developmental Biology. December 1997, 41(6): 771-777; comment 778-779.
• M. Tsukahara, K. Fujisawa, K. Yamamoto, M Hasui, C. Saito, T. Yamamaka, A. Honda, M. Honda, G. S. Tint, G. Salen, J. M. Opitz:
  Smith-Lemli-Opitz syndrome in Japan.
  American Journal of Medical Genetics. January 6, 1998, 75(1): 118-119.
• Carranza, E. Gilbert-Barness, F. Madrigal, J. M. Opitz:
  Complete absence or deficiency of one half of the body.
  American Journal of Medical Genetics. March 19, 1998, 76(3): 197-201.
• M. L. Martinez-Frias, J. L. Frias, J. M. Opitz:
  Errors of morphogenesis and developmental field theory.
  American Journal of Medical Genetics. April 1, 1998, 76(4): 291-296. Review.
• Rauch, J. M. Opitz, D. Walker:
  Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998].
  American Journal of Medical Genetics. August 6, 1998, 78(5): 406-407.
• K. Gaudenz, E. Roessler, N. Quaderi, B. Franco, G. Feldman, D. L. Gasser, B. Wittwer, J. Horst, E. Montini, J. M. Opitz, A. Ballabio, M. Muenke:
  Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
  American Journal of Medical Genetics, September 1998, 63(3): 703-710.
• J.M. Opitz, D. W. Weaver, J. F. Reynolds Jr. :
  The syndromes of Sotos and Weaver: reports and review.
  American Journal of Medical Genetics, New York, October 2, 1998, 79: 294-304. Review.
• W. R. Osebold, A. K. Poznanski, J.M. Opitz, L. O. Langer Jr, K. W. Spranger, K. K. Unni:
  Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges.
  American Journal of Medical Genetics. November 16, 1998, 80(3): 187-195.
• A. Rauch, K. A. Feindt, K. A,. Feindt, C. O. Leonard, J. A. Thompson, R. O. Hoffman, D. J. Creel, J.M. Opitz:
  Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome.
  American Journal of Medical Genetics. January 15 1999, 82(2): 194-198.
• L. A. Bradley, G. E. Palomaki, G. J. Knight, J. E. Haddow, J.M. Opitz, M. Irons M, R. I. Kelley, G. S. Tint:
  Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Review.
  American Journal of Medical Genetics. February, 12, 1999, 82(4): 355-358.
• J.M. Opitz:
  Appreciation: James V. Neel.
  American Journal of Medical Genetics. March 19, 1999, 83(3): 149-151.
• J. M. Opitz:
  The beginning of any great matter.
  American Journal of Medical Genetics. March 26, 1999, 89(1): IV.
• J. M. Opitz:
  RSH (so-called Smith-Lemli-Opitz) syndrome.
  Current Opinion in Pediatrics. August 1999, 11(4): 353-362. Review.
• A.Bohring, M. Silengo, D. Lerone, D. W. Superneau, C. Spaich, S. R. Braddock, A. Poss, J. M. Opitz:
  Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?
  American Journal of Medical Genetics. August 27, 1999, 85(5) :438-446. Review.
• R. S. Wilroy, J.M. Opitz:
  Robert Layman Summitt, M.D. 1932-1998.
  American Journal of Medical Genetics. October 29, 1999, 86(5): 403-404.
• G. K. Hahm, R. F. Barth, G. M. Schauer, R. Reiss, J.M. Opitz:.
  Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly.
  American Journal of Medical Genetics. November 5, 1999, 87(1): 45-48.
• Bohring, S. O. Lewin, J.F. Reynolds, T. Voigtlander, O. Rittinger, J. C. Carey, M. Kopernik, R. Smith, E. H. Zackai, N. J. Leonard, H. L. Gritter, J. S. Bamforth, N Okun, D. R. McLeod, M. Super, P. Powell, S. Mundlos, R. C. Hennekam, I. M. van Langen, D. H. Viskochil, H. R. Wiedemann, J.M. Opitz:
  Polytopic anomalies with agenesis of the lower vertebral column.
  American Journal of Medical Genetics. November 19, 1999, 87(2): 99-114. Review.
• E. Magenis, M. J. Webb, B. Spears, J.M. Opitz:.
  Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism.
  American Journal of Medical Genetics. December 22, 1999, 87(5): 375-383.
• J. M. Opitz.
  The days of our age: the American Journal of Medical Genetics in the next millenium.
  American Journal of Medical Genetics. January 3, 2000, 90(1): 1-5.
• A. Battaglia, J. C. Carey, D. H. Viskochil, P. Cederholm, J. M. Opitz:.
  Wolf-Hirschhorn syndrome (WHS): a history in pictures.
  Clinical Dysmorphology. January 2000, 9(1): 25-30.
• J. M. Opitz:.
  Behold the CHILD. American Journal of Medical Genetics. February 14, 2000, 90(4): 336-338.
• J. M. Opitz:
  Heterogeneity and minor anomalies.
  American Journal of Medical Genetics. April 10, 2000, 91(4): 254-255.
• J. M. Opitz:
  Heterogeneity and minor anomalies.
  American Journal of Medical Genetics. June 19, 2000, 92(5): 373-375.
• E. Gilbert-Barness, M. M. Cohen Jr, J.M. Opitz:
  Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome.
  American Journal of Medical Genetics. July 31, 2000; 93(3): 234-240.
• J. M. Opitz:
  Vision and insight in the search for gene mutations causing nonsyndromal mental deficiency. Neurology, Cleveland. August 8, 2000, 55(3): 328-330. Review.