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首页> 外文期刊>Case Reports in Genetics >Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family
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Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

机译：Bartsocas-Papas综合征：第一个报道的埃及家庭的异常发现

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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, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia. This male patient actually did not present with pterygia, however, we find his clinical description noteworthy.
机译：Bartsocas-Papas综合征（BPS）是一种常染色体隐性遗传综合征，伴有严重的颅面，肢体和生殖器异常。截至2011年，Orphanet报告系列中注册了24个已发布的病例和家庭。与其他以翼状gia肉为特征的疾病相比，该病通常更为严重，并且通常是致命的：大多数受影响的患者死于子宫内或出生后不久死亡。我们报告了埃及首个患有Bartsocas-Papas综合征的家庭，其中包括3例病例。我们的先证者，是一名患有严重的颅面和肢体异常的婴儿，典型的Bartsocas-Papas综合征，一名受类似影响的女性胎儿，在妊娠第7个月时死于子宫内，还有一个16岁的智障叔叔，表现出一些Bartsocas-Papas综合征的典型特征，包括综合征，拇指发育不全和小眼症。该男性患者实际上并未出现翼状ery肉，但是，我们发现他的临床描述值得注意。

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