Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia
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Gülay Ceylaner1, Melih A Güven, Serdar Ceylaner
1Zekai Tahir Burak Womens Health Education and Research Hospital, Department of Genetics, Ankara, Turkey. gulayceylaner@intergen.com.tr
Objectives:
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.
Methods:
Obstetric ultrasound, amniocentesis and postmortem evaluation were done.
Results:
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.
Conclusion:
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.
