American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 February 1993

Volume 45, Issue 4

Pages fmi–fmi, 413–538

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450401

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. Aase syndrome: Novel radiographic features (pages 413–415)

      A. V. Hing and S. B. Dowton

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450402

    2. Brachymesomelia and Peters anomaly: A new syndrome (pages 416–419)

      Jane D. Kivlin, John C. Carey and Mark A. Richey

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450403

    3. Segregation analysis of hypospadias: A reanalysis of published pedigree data (pages 420–425)

      Dr. Emily L. Harris and Terri H. Beaty

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450404

  3. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. Axial mesodermal dysplasia spectrum (pages 426–429)

      Fiona J. Stewart, Professor Norman C. Nevin and Stephen Brown

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450405

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. Photoanthropometric study of facial growth in Noonan syndrome (pages 430–436)

      Michael Sharland, Maureen Morgan and Dr. Michael A. Patton

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450406

    2. Genetic counselling in Noonan syndrome (pages 437–440)

      Michael Sharland, Maureen Morgan, Gill Smith, Michael Burch and Dr. Michael A. Patton

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450407

  5. Letter To The Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. You have free access to this content
  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome (pages 443–446)

      Brenda M. Finucane, Edward R. Jaeger, Michael B. Kurtz, Martha Weinstein and Charles I. Scott Jr.

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450409

    2. Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome (pages 447–449)

      Brenda M. Finucane, Michael B. Kurtz, V. Ramesh Babu and Charles I. Scott Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450410

    3. Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24 (pages 450–455)

      Fabienne E. Marchau, Bernadette C. Van Roy, Paul M. Parizel, Julien R. Lambert, Ilse De Canck, Jules G. Leroy, Carine M. Gevaert, Patrick J. Willems and Jan E. Dumon

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450411

  7. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome (pages 456–459)

      Heather J. Stalker, Ségolène Aymé, Daniele Delneste, Hélène Scarpelli, Michel Vekemans and Dr. Vazken M. Der Kaloustian

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450412

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. Dysspondylochondromatosis (pages 460–464)

      P. Freisinger, G. Finidori and P. Maroteaux

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450413

    2. Familial cases of gastroschisis in a population-based registry (pages 465–467)

      Claudine P. Torfs and Cynthia J. R. Curry

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450414

    3. Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van creveld syndrome) (pages 471–476)

      Faisal Qureshi, Suzanne M. Jacques, Mark I. Evans, Mark P. Johnson, Nelson B. Isada and S. Samuel Yang

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450416

  9. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. Protein-losing gastroenteropathy with facial anomaly and growth retardation: A mild case of Hennekam syndrome (pages 477–480)

      Michiho Yasunaga, Chutaro Yamanaka, Mitsufumi Mayumi, Tohru Momoi and Haruki Mikawa

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450417

  10. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. Otopalatodigital syndrome type II associated with omphalocele: Report of three cases (pages 481–487)

      Katherine Young, Christine K. Barth, Cynthia Moore and David D. Weaver

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450418

    2. Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features (pages 488–500)

      Leonard O. Langer Jr., Barbara J. Wolfson, Charles I. Scott Jr., Cheryl S. Reid, Daniel V. Schidlow, Edward A. Millar, Patricia F. Borns, John P. Lubicky and Dr. Becky L. M. Carpenter

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450419

    3. Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilage (pages 501–507)

      Dr. Ritta Stanescu, Victor Stanescu, Marie-Paule Muriel and Pierre Maroteaux

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450420

    4. Unusual lymphangioma observed prenatally in a 45,X fetus (pages 508–510)

      Martin C. H. Haeusler, Greg Ryan, Virginia Sams, Stephen C. Robson, Martin Young, Ian D. Sullivan, Shlomo Lipitz and Charles H. Rodeck

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450421

    5. New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects (pages 511–518)

      Gabriele Gillessen-Kaesbach, P. Meinecke, Christine Garrett, Barbara Christina Padberg, Helga Rehder and E. Passarge

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450422

  11. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. Further delineation of the Baller-Gerold syndrome (pages 519–524)

      Angela E. Lin, Elizabeth McPherson, Ngozi A. Nwokoro, Michele Clemens, H. Wolfgang Losken and John J. Mulvihill

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450423

  12. Letter To The Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review
    1. You have free access to this content
    2. You have free access to this content
      Limb deficiencies and chorion villus sampling (page 529)

      Godelieve C. M. L. Christiaens and Nico J. Leschot

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450425

    3. You have free access to this content
      Hereditary erythermalgia and acquired erythromelalgia (pages 530–531)

      Perry J. J. van Genderen, Jan J. Michiels and Joost P. H. Drenth

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450426

    4. You have free access to this content
      Resonse to Drs. van Genderen et al. (page 532)

      Dr. Wayne H. Finley, J. R. Lindsey Jr., Jo-David Fine, Gloria A. Dixon and M. K. Burbank

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450427

    5. You have free access to this content
      X-linked mental retardation with agenesis of the corpus callosum (page 533)

      Jean-Pierre Fryns

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450428

    6. You have free access to this content
      Confirmation of the mandibulofacial dysostosis, toriello type (pages 534–535)

      Leopoldo Zelante, Lucio Vigliaroli, Rita Mingarelli and Bruno Dallapiccola

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450429

    7. You have free access to this content
      Waardenburg Syndrome and spina bifida (pages 536–537)

      Professor J. G. R. Kromberg and A. Krause

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450430

  13. Book Review

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Letter To The Editors
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Letter To The Editors
    14. Book Review

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