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  • Title: Bartsocas-Papas syndrome in an Arab family with four affected sibs: further characterization.
    Author: Massoud AA, Ammaari AN, Khan AS, ven Katraman B, Teebi AS.
    Journal: Am J Med Genet; 1998 Aug 27; 79(1):16-21. PubMed ID: 9738862.
    Abstract:
    Bartsocas-Papas syndrome is a severe autosomal recessive popliteal pterygium syndrome. Other anomalies include microcephaly, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal and nonectodermal anomalies. We report on four Arab sibs with manifestations of this syndrome and some additional traits that include cutis aplasia, widely spaced nipples, low-set umbilicus, and unilateral renal hypoplasia among others. One was stillborn, and the other three children lived 10-17 months. Parents were nonconsanguineous, derived from different Bedouin tribes in Qatar and the United Arab Emirates. Similar cases from the literature are reviewed.
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