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There are 7788 results for: content related to: Dominant syndrome with isolated cryptophthalmos and ocular anomalies

  1. Isolated and syndromic cryptophthalmos

    American Journal of Medical Genetics

    Volume 25, Issue 1, September 1986, Pages: 85–98, I. T. Thomas, J. L. Frias, V. Felix, L. Sanchez de Leon, R. A. Hernandez, M. C. Jones and James F. Reynolds

    Article first published online : 4 JUN 2005, DOI: 10.1002/ajmg.1320250111

  2. Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: New syndrome or Fraser syndrome?

    American Journal of Medical Genetics

    Volume 98, Issue 3, 22 January 2001, Pages: 263–268, Piranit N. Kantaputra, Pakanart Eiumtrakul, Tada Matin, Saowaluk Opastirakul, Pannee Visrutaratna and Umnat Mevate

    Article first published online : 12 JAN 2001, DOI: 10.1002/1096-8628(20010122)98:3<263::AID-AJMG1092>3.0.CO;2-1

  3. Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome

    American Journal of Medical Genetics

    Volume 52, Issue 4, 1 October 1994, Pages: 427–431, Cathy A. Stevens, Carolyn McClanahan, Audrey Steck, Fergus O'M. Shiel and John C. Carey

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320520407

  4. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3194–3203, Mieke M. van Haelst, Peter J. Scambler and Raoul C.M. Hennekam

    Article first published online : 14 NOV 2007, DOI: 10.1002/ajmg.a.31951

  5. CRYPTOPHTHALMOS WITH ORBITO-PALPEBRAL CYST AND MICROPHTHALMOS

    Acta Ophthalmologica

    Volume 44, Issue 1, February 1966, Pages: 84–94, Niels Ehlers

    Article first published online : 27 MAY 2009, DOI: 10.1111/j.1755-3768.1966.tb06436.x

  6. Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn

    Clinical Genetics

    Volume 37, Issue 2, February 1990, Pages: 84–96, Mette Ramsing, Helga Rehder, Wolfgang Holzgreve, Peter Meinecke and Widukind Lenz

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1990.tb03484.x

  7. Renal agenesis as a diagnostic feature of the crypthophthalmos-syndactyly syndrome

    Clinical Genetics

    Volume 25, Issue 6, June 1984, Pages: 528–532, I. W. Lurie and E. D. Cherstvoy

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1984.tb00496.x

  8. Fraser syndrome (cryptophthalmos-syndactyly syndrome): A review of eleven cases with postmortem findings

    American Journal of Medical Genetics

    Volume 31, Issue 1, September 1988, Pages: 159–168, P. A. Boyd, J. W. Keeling, R. H. Lindenbaum, Giovanni Neri and James F. Reynolds

    Article first published online : 5 JUN 2005, DOI: 10.1002/ajmg.1320310119

  9. Cryptophthalmia Syndrome with Laryngeal Atresia and Bilateral Renal Agenesis: A Case Report and a Review of the Literature

    Congenital Anomalies

    Volume 27, Issue 1, March 1987, Pages: 1–10, Hideo MASHIMOTO, Takayoshi IKEDA, Takeshi MATSUO, Hiroshi MAEDA, Isao SHIMOKAWA and Hikaru FUJISHITA

    Article first published online : 2 MAY 2008, DOI: 10.1111/j.1741-4520.1987.tb00687.x

  10. Syndromic cryptophthalmos

    American Journal of Medical Genetics

    Volume 30, Issue 3, July 1988, Pages: 835–837, Martin G. Bialer, William G. Wilson and John M. Opitz

    Article first published online : 8 JUN 2005, DOI: 10.1002/ajmg.1320300317

  11. You have free access to this content
    Bilateral abortive cryptophthalmos associated with oculocutaneous albinism

    Acta Ophthalmologica Scandinavica

    Volume 77, Issue 2, April 1999, Pages: 238–240, Ö. Ömür Uçakhan, Leyla Atmaca, B. Sitki Sayli, Ceyhan Sayar and Esin Firat

    Article first published online : 23 JUN 2003, DOI: 10.1034/j.1600-0420.1999.770227.x

  12. You have free access to this content
    Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature

    Ultrasound in Obstetrics & Gynecology

    Volume 18, Issue 1, July 2001, Pages: 76–80, Dr C. Berg, A. Geipel, U. Germer, A. Pertersen-Hansen, M. Koch-DÖrfler and U. Gembruch

    Article first published online : 12 DEC 2002, DOI: 10.1046/j.1469-0705.2001.00374.x

  13. Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

    Prenatal Diagnosis

    Volume 22, Issue 8, August 2002, Pages: 692–696, Thierry Rousseau, Nicole Laurent, Christel Thauvin-Robinet, Stéphanie Lionnais, Christine Durand, Laurence Faivre and Paul Sagot

    Article first published online : 25 JUL 2002, DOI: 10.1002/pd.381

  14. Fraser and Ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 3, 1 February 2007, Pages: 241–247, Denise Pontes Cavalcanti, Verena Matejas, Daniela Luquetti, Marcos Fernando Mello and Martin Zenker

    Article first published online : 12 DEC 2006, DOI: 10.1002/ajmg.a.31426

  15. Cryptophthalmos - syndactyly syndrome without cryptophthalmos

    Clinical Genetics

    Volume 29, Issue 5, May 1986, Pages: 413–416, R. Koenig and J. Spranger

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1986.tb00513.x

  16. Facial dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1-21.1

    American Journal of Medical Genetics Part A

    Volume 117A, Issue 1, 15 February 2003, Pages: 47–56, Julie E. Hoover-Fong, J. Cai, C.B. Cargile, G.H. Thomas, A. Patel, C.A. Griffin, E.W. Jabs and A. Hamosh

    Article first published online : 19 NOV 2002, DOI: 10.1002/ajmg.a.10046

  17. CRYPTOPHTHALMOS, DYSCEPHALY, SYNDACTYLY AND RENAL APLASIA

    Acta Ophthalmologica

    Volume 56, Issue 2, April 1978, Pages: 302–313, LISBETH VARNEK

    Article first published online : 27 MAY 2009, DOI: 10.1111/j.1755-3768.1978.tb01356.x

  18. Fraser syndrome with renal agenesis in two consanguineous Turkish families

    American Journal of Medical Genetics

    Volume 36, Issue 4, August 1990, Pages: 477–479, C. Francannet, P. Lefrançois, P. Dechelotte, E. Robert, G. Malpuech and J. M. Robert

    Article first published online : 5 JUN 2005, DOI: 10.1002/ajmg.1320360421

  19. DIAGNOSTIC ECHOGRAPHIC FINDINGS IN CRYPTOPHTHALMOS SYNDROME (FRASER SYNDROME)

    Prenatal Diagnosis

    Volume 17, Issue 6, June 1997, Pages: 582–584, JEAN-PIERRE FRYNS, DOMINIQUE VAN SCHOUBROECK, KAMIEL VANDENBERGHE, HERMAN NAGELS and PATRICK KLERCKX

    Article first published online : 4 DEC 1998, DOI: 10.1002/(SICI)1097-0223(199706)17:6<582::AID-PD107>3.0.CO;2-Y

  20. Fused eyelids, airway anomalies, ovarian cysts, and digital abnormalities in siblings: A new autosomal recessive syndrome or a variant of Fraser syndrome?

    American Journal of Medical Genetics

    Volume 40, Issue 3, 1 September 1991, Pages: 377–382, Wahib Mena, Natalie Krassikoff and Joseph B. Philips III

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320400327