Topcu, Vehap Zekai Tahir Burak Maternity Teaching Hospital - Department of Medical Genetics, Turkey , Çakar, Esra Şükran Zekai Tahir Burak Maternity Teaching Hospital - Department of Medical Genetics, Turkey , Bakır, Abdullatif Zekai Tahir Burak Maternity Teaching Hospital - Department of Medical Genetics, Turkey , Ekici, Eyüp Zekai Tahir Burak Maternity Teaching Hospital - Department of Perinatology, Turkey , Danışman, Nuri Zekai Tahir Burak Maternity Teaching Hospital - Department of Perinatology, Turkey

Lumbosacral spina bifida in a case with Pallister-Killian syndrome

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Pallister-Killian syndrome (PKS) is a rare disorder caused by tissue limited mosaic tetrasomy of12p. PKS is clinically characterized with facial dysmorphism, mental-motor retardation, hypotoniaand internal abnormalities. Most widely seen features include diaphragmatic hernia, rhizomelicupper limbs and cardiac abnormalities. It is diagnosed by means of cytogenetic analysis of amniocytes, chorionic villus, fetal blood lymphocytes or fibroblasts. Cytogenetic analysis of lymph ocytes usually shows up normal result. Here, we report a fetus demonstrating irregular vertebralbody alignment, omphalocele and left ventricle hypoplasia detected in fetal ultrasonography eva luation of a woman referred to our hospital at 19-week gestational age because of high risk forneural tube defect in second trimester screening test. Cytogenetic analysis was not performed inchorionic villus or amniocytes. The pregnancy was terminated at 20-week gestational age. PKSwas suspected because of the omphalocele and sacral appendage findings in postmortem examin ation. Skin fibroblast culture revealed 47, XY, i (12) (p10) karyotype, confirming the diagnosis.This is the first case of PKS with lumbosacral spina bifida reported. Sacral appendage is a rarefinding and reported in few cases. Cytogenetic investigation is the most widely used method todiagnose PKS and is helpful to differentiate PKS from Fryns syndrome that may bear similarclinical findings.

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Pallister , Killian syndrome , left ventricular hypoplasia , omphalocele , irregularly aligned vertebral bodies , lumbosacral spina bifida , sacral appendage

Cumhuriyet Medical Journal

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