Ceylaner Gülay, Güven Melih A, Ceylaner Serdar, Uzel Murat, Müftüoğlu Kamil
Zekai Tahir Burak Womens Health Education and Research Hospital, Department of Genetics, Ankara, Turkey.
Prenat Diagn. 2007 Jun;27(6):563-5. doi: 10.1002/pd.1723.
Bartsocas-Papas syndrome is a severe, autosomal recessive syndrome. The major findings are severe popliteal webbing, ankyloblepharon, syndactyly, orofacial clefts, filiform bands, hypoplastic nose and ectodermal anomalies. We report a Turkish family with three affected pregnancies and a fetus prenatally diagnosed and terminated in pregnancy.
Obstetric ultrasound, amniocentesis and postmortem evaluation were done.
Obstetric ultrasound presented lower limb malformations and facial findings. Postmortem fetal evaluation showed severe lower limb findings, less severe upper limb involvement and classical facial features of the syndrome.
Upper limb pterygia is an unusual finding and reported in just two patients who were classified as having multiple pterygium syndrome, Aslan Type (605203) in the OMIM catalogue. We thought, as did many other authors, that those cases were consistent with Bartsocas-Papas syndrome and upper limb involvement less severe than lower limb findings as rare findings of this syndrome.
巴尔索卡斯 - 帕帕斯综合征是一种严重的常染色体隐性综合征。主要表现为严重的腘窝蹼、睑球粘连、并指（趾）、口面裂、丝状带、鼻发育不全和外胚层异常。我们报告了一个土耳其家庭，其中有三次受影响的妊娠，还有一个胎儿在产前被诊断出并终止妊娠。
进行了产科超声检查、羊膜穿刺术和尸检评估。
产科超声显示下肢畸形和面部表现。尸检胎儿评估显示严重的下肢表现、上肢受累较轻以及该综合征的典型面部特征。
上肢翼状胬肉是一种不常见的表现，仅在两名患者中报告过，这两名患者在《医学遗传学在线数据库》（OMIM）目录中被归类为患有阿斯兰型（605203）多发性翼状胬肉综合征。我们和许多其他作者一样认为，这些病例与巴尔索卡斯 - 帕帕斯综合征相符，且上肢受累程度不如下肢严重是该综合征的罕见表现。
