American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

August 1989

Volume 33, Issue 4

Pages fmi–fmi, 433–563

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. Masthead (page fmi)

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330401

  2. New Syndrome

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
  3. Articles

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. Lissencephaly, abnormal lymph nodes, and T-cell deficiency in one patient (pages 436–443)

      Dr. M. B. Krawinkel, M. Ernst, A. Feller, H. D. Flad, H. K. Mueller-Hermelink, A. J. Ulmer and J. Schaub

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330403

    2. Congenital shortness of the costocoracoid ligament (pages 444–446)

      Dr. J. Stephen Bamforth, Michael H. Bell, Judith G. Hall and Robert B. Salter

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330404

  4. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. Postaxial acrofacial dysostosis: Report of a Brazilian patient (pages 447–449)

      Dr. A. Richieri-Costa and M. L. Guion-Almeida

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330405

    2. Atypical postaxial acrofacial dysostosis (AFD): Diabetic embryopathy or a new AFD syndrome? (pages 450–452)

      Dr. A. Richieri-Costa and M. L. Guion-Almeida

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330406

  5. Articles

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. A case of de novo i(12p) with 12q whole-arm translocation mosaicism (pages 453–456)

      Antonia Paula Marques-de-Faria and Christine Hackel

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330407

    2. Nocturnal rhythm of growth hormone in Duchenne patients: Effect of different doses of mazindol and/or cyproheptadine (pages 457–467)

      Mayana Zatz, Debora Rapaport, Rita C. M. Pavanello, Jane M. L. Rocha, Mariz Vainzof and W. Nicolau

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330408

    3. Cardio-facio-cutaneous (CFC) syndrome: Report of a new patient (pages 471–473)

      Kristina Chrzanowska, Jean-Pierre Fryns and Herman Van den Berghe

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330410

  6. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. A case of cardio-facio-cutaneous syndrome (pages 474–475)

      Dr. E. S. Mucklow

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330411

  7. Articles

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. CFC syndrome: Report on three additional cases (pages 476–478)

      Dr. Giovanni Sorge, Filippo Di Forti, Gioacchino Scarano, Valerio Ventruto, Leopoldo Zelante and Bruno Dallapiccola

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330412

    2. A new autosomal recessive disorder resembling Weaver syndrome (pages 479–482)

      Dr. Ahmad S. Teebi, T. S. Sundareshan, Mousa Y. Hammouri, Sadika A. Al-Awadi and Qasem A. Al-Saleh

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330413

    3. Dandy-Walker malformation with postaxial polydactyly: A new syndrome? (pages 483–484)

      Dr. G. Pierquin, J. Deroover, S. Levi, T. Masson, F. Hayez-Delatte and N. Van Regemorter

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330414

    4. Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease (pages 485–488)

      Danping Zhu, Stylianos E. Antonarakis, Barbara J. Schmeckpeper, Paul J. Diergaarde, Anne E. Greb and Irene H. Maumenee

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330415

    5. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome) (pages 489–499)

      Kimberly Iafolla, Jonathan D. Fratkin, Peter K. Spiegel, M. Michael Cohen Jr. and John M. Graham Jr.

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330416

  8. Letter to the Editor

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. Three additional cases of the congenital hypothalamic “hamartoblastoma” (Pallister-Hall) syndrome (pages 500–501)

      Philip D. Pallister, Frederick Hecht and Jürgen Herrman

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330417

  9. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. Terminal deletion of the long arm of chromosome 10: Case report and review of the literature (pages 502–504)

      Dr. Marino Gorinati, Gaetano Zamboni, Nadia Padoin, Andrea Dodero, Daniele Caufin and Luigi Memo

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330418

  10. Articles

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3) (pages 505–507)

      Satoshi Ishikiriyama, Hidefumi Tonoki, Yoshitaka Shibuya, Shinki Chin, Naoki Harada, Kyohko Abe and Norio Niikawa

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330419

    2. Growth and development in thanatophoric dysplasia (pages 508–512)

      Ian M. MacDonald, Alasdair G. W. Hunter, Patrick M. MacLeod and S. Brock MacMurray

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330420

  11. Addendum

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. You have free access to this content
      Addendum (page 512)

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330421

  12. Articles

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. Longitudinal IQ changes in fragile X males (pages 513–518)

      Randi J. Hagerman, Rebecca A. Schreiner, Melinda B. Kemper, Michael D. Wittenberger, Betsy Zahn and Kristin Habicht

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330422

    2. Poland anomaly in mother and daughter (pages 519–521)

      Jan M. Cobben, Peter H. Robinson, Antonie J. van Essen, Herman L. van der Wiel and Leo P. ten Kate

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330423

    3. Case of lethal multiple pterygium syndrome with special reference to the origin of pterygia (pages 537–541)

      N. G. Hartwig, Chr. Vermeij-Keers, J. A. Bruijn, K. van Groningen, H. P. Ottervanger and J. P. Holm

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330425

    4. Autosomal recessive form of whistling face syndrome in sibs (pages 542–544)

      Dr. Bruno Dallapiccola, Aldo Giannotti, Antonio Lembo and Luigi Sagui

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330426

    5. Absence of familial association between dementia of Alzheimer type and down syndrome (pages 545–550)

      C. Berr, E. Borghi, M. O. Rethoré, J. Lejeune and A. Alperovitch

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330427

  13. Letter to the Editor

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. Dominantly inherited syndromic blepharophimosis (page 551)

      David Bixler

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330428

    2. Imperforate anus in the Pallister-Killian syndrome (page 552)

      Meinhard Robinow

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330429

    3. Child with deletion of 4q and duplication of 1q (pages 553–554)

      Jonathan Wade, Thomas Morgan and Judith Allanson

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330430

  14. Rapid Publication

    1. Top of page
    2. Masthead
    3. New Syndrome
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter to the Editor
    10. Brief Clinical Reports
    11. Articles
    12. Addendum
    13. Articles
    14. Letter to the Editor
    15. Rapid Publication
    1. Defective lysosomal release of vitamin B12 (cblF): A hereditary cobalamin metabolic disorder associated with sudden death (pages 555–563)

      Vivian E. Shih, Sarah M. Axel, John C. Tewksbury, David Watkins, B. A. Cooper and David S. Rosenblatt

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330431

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