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There are 2989137 results for: content related to: Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow-up study documents progressive clinical course

  1. You have free access to this content
    Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 3, 30 July 2005, Pages: 233–241, Vishal K. Agarwal, Ralph S. Lachman, David L. Rimoin and William R. Wilcox

    Article first published online : 13 JUN 2005, DOI: 10.1002/ajmg.a.30805

  2. Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis

    American Journal of Medical Genetics

    Volume 55, Issue 2, 16 January 1995, Pages: 205–212, Dr. Alain Verloes and Albert David

    Article first published online : 16 MAY 2005, DOI: 10.1002/ajmg.1320550211

  3. Kantaputra mesomelic dysplasia: A second reported family

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 1, 1 July 2004, Pages: 6–11, Deborah J. Shears, Amaka Offiah, Paul Rutland, Tony Sirimanna, Maria Bitner-Glindzicz and Christine Hall

    Article first published online : 20 MAY 2004, DOI: 10.1002/ajmg.a.20640

  4. New mesomelic dysplasia with absent fibulae and triangular tibiae

    American Journal of Medical Genetics

    Volume 94, Issue 1, 4 September 2000, Pages: 59–63, Ravi Savarirayan, Valérie Cormier-Daire, Cynthia J. Curry, Marcus B. Nashelsky, Valerie Rappaport, David L. Rimoin and Ralph S. Lachman

    Article first published online : 6 SEP 2000, DOI: 10.1002/1096-8628(20000904)94:1<59::AID-AJMG12>3.0.CO;2-2

  5. Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: A new autosomal dominant bone disorder

    American Journal of Medical Genetics

    Volume 44, Issue 6, 1 December 1992, Pages: 730–737, Piranit N. Kantaputra, Robert J. Gorlin and Leonard O. Langer Jr.

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320440606

  6. Mesomelic dysplasia, Kantaputra type: Clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 4, 1 August 2004, Pages: 404–409, M.L. Kwee, J.A. van de Sluijs, J.M.G. van Vugt, L.C.D. Wijnaendts and J.J.P. Gille

    Article first published online : 18 MAY 2004, DOI: 10.1002/ajmg.a.30120

  7. Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 2, 1 October 2003, Pages: 159–163, Andrea Camera and Gianni Camera

    Article first published online : 16 JUN 2003, DOI: 10.1002/ajmg.a.20222

  8. Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?

    American Journal of Medical Genetics

    Volume 37, Issue 1, September 1990, Pages: 10–14, Dr. Rena Petrella, Mark D. Ludman, Jack G. Rabinowitz, Fred Gilbert and Kurt Hirschhorn

    Article first published online : 8 JUN 2005, DOI: 10.1002/ajmg.1320370104

  9. Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts

    American Journal of Medical Genetics

    Volume 109, Issue 3, 1 May 2002, Pages: 206–210, Beyhan Tüysüz, Cenap Zeybek, Gazi Zorer, Özlem Sipahi and Savas Üngür

    Article first published online : 16 APR 2002, DOI: 10.1002/ajmg.10283

  10. You have free access to this content
    Craniofacial anomalies, humero-radial synostosis, rhizomelic limb shortness: Previously unrecognized autosomal recessive syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 6, 15 March 2007, Pages: 521–527, Zuhair N. Al-Hassnan and Ahmad S. Teebi

    Article first published online : 15 FEB 2007, DOI: 10.1002/ajmg.a.31612

  11. You have free access to this content
    Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1775–1780, Romain Guilherme, Clarisse Baumann, Catherine Garel, Yolène Huten, Jean-François Oury and Anne-Lise Delezoide

    Article first published online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32380

  12. Rhomboid shaped tibia and hypoplastic fibula: A variant of Nievergelt syndrome

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 4, 1 May 2003, Pages: 394–397, P. Monga, M.K.S. Swamy and K.S. Rao

    Article first published online : 23 JAN 2003, DOI: 10.1002/ajmg.a.10178

  13. International nosology and classification of constitutional disorders of bone (2001)

    American Journal of Medical Genetics

    Volume 113, Issue 1, 15 November 2002, Pages: 65–77, Christine M. Hall

    Article first published online : 29 AUG 2002, DOI: 10.1002/ajmg.10828

  14. Metaphyseal chondrodysplasia, upper limb mesomelia and normal height (mesomelic dysplasia camera type): Second report in a Mexican patient

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 4, 15 February 2008, Pages: 479–483, L.E. Becerra-Solano, G. Castañeda-Cisneros, R. Bañuelos-Acosta, J. Sánchez-Corona and J.E. García-Ortiz

    Article first published online : 17 JAN 2008, DOI: 10.1002/ajmg.a.32082

  15. Fetal Skeletal Anomalies

    Clinical Obstetrics: The Fetus & Mother, Third Edition

    Luís F. Gonçalves, Patricia L. Devers, Jimmy Espinoza, Roberto Romero, Pages: 401–472, 2008

    Published Online : 14 JAN 2008, DOI: 10.1002/9780470753293.ch26

  16. Alice Vance (“Das Bärenweib”): A historical case of Nievergelt syndrome

    American Journal of Medical Genetics

    Volume 76, Issue 2, 5 March 1998, Pages: 145–149, Maik Urban and Sandra Krüger

    Article first published online : 8 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19980305)76:2<145::AID-AJMG7>3.0.CO;2-S

  17. Werner mesomelic dysplasia with Hirschsprung disease

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 2, 1 December 2003, Pages: 186–189, Alice Goldenberg, Mathieu Milh, Pascal de Lagausie, Renaud Mesnage, Fatiha Benarif, Marie-Christine De Blois, Arnold Munnich, Stanislas Lyonnet and Valérie Cormier-Daire

    Article first published online : 29 MAY 2003, DOI: 10.1002/ajmg.a.20285

  18. Thirteen-year-follow up report on mesomelic dysplasia, Kantaputra type (MDK), and comments on the paper of the second reported family of MDK by Shears et al.

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 1, 1 July 2004, Pages: 1–5, Piranit Nik Kantaputra

    Article first published online : 17 DEC 2003, DOI: 10.1002/ajmg.a.20642

  19. Juberg–Hayward syndrome: Report of a new patient with severe phenotype and novel clinical features

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 3, 15 October 2003, Pages: 257–260, Peter Hedera and Jeffrey W. Innis

    Article first published online : 15 MAY 2003, DOI: 10.1002/ajmg.a.20263

  20. Pallister–Hall syndrome: Unreported skeletal features of a GLI3 mutation

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Pages: 390–394, T. Roscioli, D. Kennedy, J. Cui, B. Fonseca, G.F. Watson, J. Pereira, Y-G. Xie and D. Mowat

    Article first published online : 8 JUL 2005, DOI: 10.1002/ajmg.a.30818