Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

Article, Report English OPEN
Abdalla, E. M.; Morsy, H.;
(2011)
  • Publisher: Hindawi Publishing Corporation
  • Journal: Case Reports in Genetics,volume 2,011 (issn: 2090-6544, eissn: 2090-6552)
  • Related identifiers: pmc: PMC3447233, doi: 10.1155/2011/428714
  • Subject: QH426-470 | Genetics | Case Report | Article Subject

Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia,... View more
  • References (18)
    18 references, page 1 of 2

    Bartsocas, C. S., Papas, C. V.. Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form. Journal of Medical Genetics. 1972; 9 (2): 222-226

    Massoud, A. A., Ammaari, A. N., Khan, A. S. S., Katraman, B. V., Teebi, A. S.. Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization. American Journal of Medical Genetics. 1998; 79 (1): 16-21

    Reich, E., Wishnick, M., McCarthy, J., Tzimas, N.. Long term follow up in an 8-year old with the “lethal” popliteal pterygium syndrome (Bartsocas-Papas syndrome). American Journal of Medical Genetics. 1984; 17: 841-847

    Dolan, S. M., Shanske, A. L., Marion, R. W., Gross, S. J.. First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature. Prenatal Diagnosis. 2003; 23 (2): 138-142

    Orphanet Report Series, null. Prevalence of rare diseases: bibliographic data.

    Veenstra-Knol, H. E., Kleibeuker, A., Timmer, A., Ten Kate, L. P., Van Essen, A. J.. Unreported manifestations in two dutch families with Bartsocas-Papas syndrome. American Journal of Medical Genetics. 2003; 123 (3): 243-248

    Hennekam, R. C. M., Huber, J., Variend, D.. Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome?. American Journal of Medical Genetics. 1994; 53 (2): 102-107

    Hall, J. G., Reed, S. D., Rosenbaum, K. N., Gershanik, J., Chen, H., Wilson, K. M.. Limb pterygium syndromes: a review and report of eleven patients. American Journal of Medical Genetics. 1982; 12 (4): 377-409

    Ceylaner, G., Güven, M. A., Ceylaner, S., Uzel, M., Müftüoǧlu, K.. Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia. Prenatal Diagnosis. 2007; 27 (6): 563-565

    Aslan, Y., Erduran, E., Kutlu, N.. Autosomal recessive multiple pterygium syndrome: a new variant?. American Journal of Medical Genetics. 2000; 93 (3): 194-197

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