American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

March 1988

Volume 29, Issue 3

Pages fmi–fmi, 477–726, i–iv

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. You have free access to this content
      Masthead (page fmi)

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290301

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Facial midline defect in the fetal alcohol syndrome. Embryogenetic considerations in two clinical cases (pages 477–482)

      Prof. G. Neri, V. Sammito, C. Romano, S. Sanfilippo, J. M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320290302

    2. Agnathia, holoprosencephaly, and situs inversus. Report of a case (pages 483–490)

      Dr. Richard W. Leech, Linda S. Bowlby, Roger A. Brumback, G. Bradley Schaefer Jr., John M. Optiz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320290303

    3. Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins (pages 491–499)

      Dr. Ann Haskins Olney, Bruce A. Buehler, Mary Waziri, John M. Optiz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320290304

    4. Prenatal diagnosis of distal arthrogryposis (pages 501–510)

      Bonnie J. Baty, Don Cubberley, Colleen Morris, John Carey and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320290305

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. 47,XXX chromosome constitution, ovarian dysgenesis, and genito-urinary malformation (pages 511–515)

      Dr. Gerald S. Spear, Manuel Porto, John M. Optiz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320290306

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Deletion mapping of the β-glucuronidase gene (pages 517–522)

      Dr. Judith E. Allanson, Robert M. Gemmill, Barbara K. Hecht, Stanley Johnsen, David A. Wenger, John M. Optiz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320290307

    2. XK aprosencephaly and anencephaly in sibs (pages 523–528)

      Dr. Philip L. Townes, Karen Reuter, Elizabeth E. Rosquete, B. Dale Magee, John M. Optiz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320290308

  5. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Monozygotic turner syndrome twins—correlation of phenotype severity and heart defect (pages 529–531)

      Dr. Angela E. Lin, Kenneth L. Garver and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320290309

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Multiple sclerosis. Updated risks for relatives (pages 533–541)

      Dr. Adele D. Sadovnick, Patricia A. Baird, Richard H. Ward, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290310

  7. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Tetraploidy in a 15-month-old girl (pages 543–547)

      Dr. Hiroshi Shiono, Jun-ichi Azumi, Masataka Fujiwara, Hirobumi Yamazaki, Koukichi Kikuchi, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290311

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions (pages 549–556)

      David Castle, Dr. Renee Bernstein, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290312

    2. Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome (pages 557–564)

      Dr. K. E. Davies, M. N. Patterson, S. J. Kenwrick, M. V. Bell, H. R. Sloan, J. A. Westman, L. J. Elsas II, J. Mahan, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290313

    3. 45,X/46,XY Mosaicism. Contrast of prenatal and postnatal diagnosis (pages 565–571)

      M. Wheeler, D. Peakman, A. Robinson, G. Henry, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290314

    4. The Weismann-Netter syndrome (pages 573–579)

      Dr. Meinhard Robinow, G. Frank Johnson and John M. Optiz

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290315

    5. International nosology of heritable disorders of connective tissue, Berlin, 1986 (pages 581–594)

      Prof. P. Beighton, A. de Paepe, D. Danks, G. Finidori, T. Gedde-Dahl, R. Goodman, J. G. Hall, D. W. Hollister, W. Horton, V. A. McKusick, J. M. Opitz, F. M. Pope, R. E. Pyeritz, D. L. Rimoin, D. Sillence, J. W. Spranger, E. Thompson, P. Tsipouras, D. Viljoen, I. Winship, I. Young and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290316

  9. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
  10. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Optic nerve coloboma associated with renal disease (pages 597–605)

      Dr. R. Grey Weaver, L. Frank Cashwell, William Lorentz, David Whiteman, Kim R. Geisinger, Marshall Ball, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290318

  11. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Hyperlaxity in males with Melnick-Needles syndrome (pages 607–611)

      J. P. Fryns, A. Schinzel, H. Van den Berghe and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290319

  12. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Parental decision following prenatal diagnosis of fetal chromosome abnormality (pages 613–622)

      Dr. Marion S. Verp, Allan T. Bombard, Joe Leigh Simpson, Sherman Elias, James F. Reynolds and Judith G. Hall

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290320

    2. A new autosomal recessive lethal chondrodystrophy with congenital hydrops (pages 623–632)

      Cheryl R. Greenberg, Dr. David L. Rimoin, Helen E. Gruber, D. J. B. DeSa, M. Reed, Ralph S. Lachman, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290321

    3. Rett syndrome in monozygotic twins (pages 633–637)

      M. W. Partington, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290322

    4. Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family (pages 639–647)

      Dr. Bernard S. Kaplan, Paige Kaplan, Jean-Pierre de Chadarevian, Sigrid Jequier, Sean O'Regan, Pierre Russo, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290323

    5. Inbreeding in outport Newfoundland (pages 649–660)

      Dr. J. C. Bear, T. F. Nemec, J. C. Kennedy, W. H. Marshall, A. A. Power, V. M. Kolonel, G. B. Vurke, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290324

  13. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Polyostotic fibrous dysplasia with cranial hyperostosis: New entity or most severe form of polyostotic fibrous dysplasia? (pages 661–667)

      Dr. D. L. Viljoen, G. A. Versfeld, W. Losken, P. Beighton, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290325

  14. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Response from Dr. Hockey (pages 671–672)

      Dr. A. Hockey, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290327

    2. Intestinal atresia and arthrogryposis (pages 673–674)

      Helena G. Ilyina, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290328

    3. Isotretinoin phenocopy (page 675)

      Edward J. Lammer, Ailish M. Hayes, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290329

    4. Response by Drs. Lungarotti and Calabro (pages 677–678)

      M. Serena Lungarotti, Anna Calabro and John M. Optiz

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290330

  15. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Dysplasia, cytodysplasia and tuberous sclerosis (pages 679–680)

      Ricardo Drut, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290331

  16. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Norman-Roberts syndrome (pages 681–683)

      Prakash Kotagal, Robert P. Cruse, Melinda L. Estes, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290332

    2. Dermatoglyphic findings in chromosome 1 long arm deletions (pages 685–689)

      Dr. Terry Reed, Athena Milatovich, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290333

    3. Oculoauriculovertebral dysplasia (pages 691–692)

      Holly H. Ardinger, Angela E. Lin, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290334

    4. Response from Drs. Rollnick and Kaye (pages 693–694)

      Beverly R. Rollnick, Celia I. Kaye and John M. Optiz

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290335

    5. Renal ultrasound examination of parents in dominantly inherited renal adysplasia—a note of caution (pages 695–696)

      A. Bankier, L. J. Sheffield, D. M. Danks and John M. Optiz

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290336

    6. Response by Dr. McPherson (pages 697–698)

      Elspeth McPherson and John M. Optiz

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290337

  17. Book Review

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
  18. Rapid Publication Article

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Diagnosis of classical steroid 21-hydroxylase deficiency using an HLA-B locus-specific DNA-probe (pages 703–712)

      Anthony A. Killeen, Steven Seelig, Robert A. Ulstrom, Dr. Harry T. Orr, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290340

    2. Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophy in cDNA (pages 713–726)

      Basil T. Darras, Michel Koenig, Louis M. Kunkel, Uta Francke, John M. Optiz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290341

  19. Announcements

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letters to the Editor
    11. Articles
    12. Brief Clinical Report
    13. Articles
    14. Brief Clinical Report
    15. Letters to the Editor
    16. Articles
    17. Letters to the Editor
    18. Book Review
    19. Rapid Publication Article
    20. Announcements
    1. Announcement (pages i–iv)

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320290342

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