American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 October 1993

Volume 47, Issue 5

Pages fmi–fmi, 575–806

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470501

  2. Guest Editor'S Notes

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. You have free access to this content
      Robert J. Gorlin Festschrift: Guest editor's note (page 575)

      Dr. M. Michael Cohen Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470502

  3. Forewords

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. Foreword (page 576)

      Clarke Fraser

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470503

    2. Foreword: The making of a syndromologist (page 577)

      Victor McKusick

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470504

    3. Foreword (page 578)

      Paul Tessier

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470505

  4. Articles

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. Robert J. Gorlin revisited (pages 579–580)

      M. Michael Cohen Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470506

    2. Sutural biology and the correlates of craniosynostosis (pages 581–616)

      M. Michael Cohen Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470507

    3. Growth pattern in the Apert syndrome (pages 617–623)

      Dr. M. Michael Cohen Jr. and Sven Kreiborg

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470508

    4. Skeletal abnormalities in the Apert syndrome (pages 624–632)

      Dr. M. Michael Cohen Jr. and Sven Kreiborg

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470509

    5. Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2 (pages 633–636)

      Dr. W. Reardon, S. P. McManus, D. Summers and R. M. Winter

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470510

    6. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22 (pages 637–639)

      Cheryl S. Reid, Lydia E. McMorrow, Donna M. McDonald-McGinn, Kimberly J. Grace, Feliciano J. Ramos, Elaine H. Zackai, M. Michael Cohen Jr. and Ethylin Wang Jabs

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470511

    7. Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: A unique multiple malformation syndrome (pages 640–643)

      Stephen R. Braddock, Kenneth L. Jones, Duane W. Superneau and Marilyn C. Jones

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470512

  5. Editorial Comments

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. On the paper by Braddock et al. (page 644)

      Dr. M. Michael Cohen Jr.

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470513

  6. Articles

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. Proteus syndrome: Clinical evidence for somatic mosaicism and selective review (pages 645–652)

      Dr. M. Michael Cohen Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470514

    2. Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism (pages 653–655)

      Renata Rizzo, Lorenzo Pavone, Giuseppe Micali, Francesco Nigro and Dr. M. Michael Cohen Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470515

    3. Compromise of the spinal canal in Proteus syndrome (pages 656–659)

      Flemming Skovby, John M. Graham Jr., Stig Sonne-Holm and Dr. M. Michael Cohen Jr.

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470516

    4. Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X-linked dominant catania form of acrofacial dysostosis (pages 660–678)

      John M. Opitz, Florindo Mollica, Giovanni Sorge, Gabriella Milana, Gabriella Cimino and Mario Caltabiano

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470517

    5. Difference in methylation patterns within the D15S9 region of chromosome 15qll–13 in first cousins with Angelman syndrome and Prader–Willi syndrome (pages 683–686)

      Dr. Jill Clayton-Smith, Daniel J. Driscoll, Michael F. Waters, Tessa Webb, Tony Andrews, Sue Malcolm, Marcus E. Pembrey and Robert D. Nicholls

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470519

  7. Editorial Comments

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
  8. Articles

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes (pages 698–701)

      Dr. F. -M. Müller, G. M. Barth, H. Menger and J. Spranger

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470522

    2. Johnson–McMillin syndrome: Report of another family (pages 714–716)

      Dr. Raoul C. M. Hennekam and Frank J. A. M. Holtus

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470526

  9. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi–Shaltout syndrome): Clinical and autopsy findings (pages 717–722)

      PD Dr. Ursula G. Froster, Helga Rehder, Wilfried Höhn and Friedhelm Oberheuser

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470527

  10. Articles

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. Evidence for multi-site closure of the neural tube in humans (pages 723–743)

      Dr. Margot I. Van Allen, Dagmar K. Kalousek, Gerold F. Chernoff, Diana Juriloff, Muriel Harris, Barbara C. McGillivray, Siu-Li Yong, Sylvie Langlois, Patrick M. Macleod, David Chitayat, Jan M. Friedman, R. Doug Wilson, Deborah McFadden, J. Pantzar, Susan Ritchie and Judith G. Hall

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470528

    2. Extension of the cleft lip phenotype: The subepithelial cleft (pages 744–747)

      Dr. Rick A. Martin, Kenneth L. Jones and Kurt Benirschke

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470529

    3. Anthropometric craniofacial pattern profiles in Down syndrome (pages 748–752)

      Dr. J. E. Allanson, P. O'Hara, L. G. Farkas and R. C. Nair

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470530

    4. Cranial base and face in mandibulofacial dysostosis (pages 753–760)

      Dr. Sven Kreiborg and Erik Dahl

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470531

  11. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. Lingua cochlearis in multiple pterygium syndrome (page 761)

      Dr. Raoul C. M. Hennekam

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470532

  12. Articles

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. Lingual lesions and liabilities (pages 762–764)

      Dr. M. Michael Cohen Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470533

    2. Angel-shaped phalango-epiphyseal dysplasia (ASPED): Identification of a new genetic bone marker (pages 765–771)

      Dr. A. Giedion, A. Prader, C. Fliegel, N. Krasikov, L. Langer and A. Poznanski

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470534

    3. Short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: A new type of SRPS or a more severe expression of a known SRPS entity? (pages 782–787)

      Dr. MaríA-Luisa Martínez-Frías, Eva Bermejo, Miguel Urioste, Javier Egüés and José A. LÓPez Soler

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470536

    4. Mesomelic limb shortness: A previously unreported autosomal recessive type (pages 788–792)

      Dr. W. Reardon, C. M. Hall, S. Slaney, S. M. Huson, J. Connell, N. Al-Hilaly, J. Fixsen, M. Baraitser and R. M. Winter

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470537

    5. Schimke immuno-osseous dysplasia: Case report and review (pages 793–796)

      Mark D. Ludman, David E. C. Cole, John F. S. Crocker and Dr. M. Michael Cohen Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470538

  13. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. Provisionally unique autosomal recessive chondrodysplasia punctata syndrome (pages 797–799)

      Dr. Helga V. Toriello, James V. Higgins and Theodore Miller

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470539

  14. Articles

    1. Top of page
    2. Masthead
    3. Guest Editor'S Notes
    4. Forewords
    5. Articles
    6. Editorial Comments
    7. Articles
    8. Editorial Comments
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Articles
    14. Brief Clinical Report
    15. Articles
    1. Cognitive skills in achondroplasia (pages 800–804)

      G. Brinkmann, H. Schlitt, P. Zorowka and J. Spranger

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470540

    2. Historical case of dwarfism: Attempted diagnosis (pages 805–806)

      Professor Hans-Rudolf Wiedemann

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470541

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