Literature DB >> 12575021

First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: case report and review of the literature.

Siobhan M Dolan1, Alan L Shanske, Robert W Marion, Susan J Gross.   

Abstract

Initially described in 1972, Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited disorder combining multiple pterygia, ankyloblepharon, cleft lip and palate, filiform bands between the jaws, syndactyly, and other anomalies. Although described as lethal, review of the literature reveals three individuals who survived into childhood with this condition. We describe a fourth surviving patient and what we believe to be the first prenatal diagnosis of BPS in the first trimester. Copyright 2003 John Wiley & Sons, Ltd.

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Year:  2003        PMID: 12575021     DOI: 10.1002/pd.560

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  3 in total

1.  A Family from Turkey with Bartsocas-Papas Syndrome.

Authors:  Rukiye Ada Bender; Esra Cinar Tanriverdi; Aykan Yucel; Mustafa Genco Erdem
Journal:  Eurasian J Med       Date:  2017-02

2.  Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

Authors:  Ersan Kalay; Orhan Sezgin; Vasant Chellappa; Mehmet Mutlu; Heba Morsy; Hulya Kayserili; Elmar Kreiger; Aysegul Cansu; Bayram Toraman; Ebtesam Mohammed Abdalla; Yakup Aslan; Shiv Pillai; Nurten A Akarsu
Journal:  Am J Hum Genet       Date:  2011-12-22       Impact factor: 11.025

3.  Bartsocas-papas syndrome: unusual findings in the first reported egyptian family.

Authors:  E M Abdalla; H Morsy
Journal:  Case Rep Genet       Date:  2011-11-02
  3 in total

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