F. HAZAN, Ö OLUKMAN, F GÖKASLAN, Ş ÇALKAVUR, T MEŞE, V TAVLI, F. ATLİHAN

Patau sendromlu üç olgu: Sendroma klinik triad (mikroftalmi, yarık dudak/ damak, polidaktili) her zaman eşlik eder mi?

Trizomi 13 (Patau sendromu) orta hat defektleri, santral sinir sistemi, kalp, ürogenital sistem anomalileri ve motor mental retardasyon ile karakterize olan, kromozomal bir hastalıktır. Sendrom, 10.000-20.000 canlı doğumda bir görülür. Hastaların büyük bir çoğunluğu, ilk yılda kaybedilmektedir. Patau sendromu; mikrooftalmi, yarık dudak/damak ve polidaktiliyi içeren klinik triad ile karakterizedir. Burada, klinik ve sitogenetik olarak Patau sendromu tanısı koyduğumuz 3 hastayı sunuyoruz. Sendromun klinik triadı açısından değerlendirildiğinde,1. hastada mikroftalmi/anoftalmi ve polidaktili, 2. hastada sadece polidaktili, 3. hastada anoftalmi, yarık damak ve polidaktili bulunmaktaydı. Patau sendromu klinik tanısı için, triad bulguları olmasının her zaman beklenmemesi gerektiğini ve multipl anomalisi olan yenidoğanda tanı için, sendromun diğer bulgularının da göze alınmasının önemini vurgulamak istiyoruz. Kesin tanı için, karyotip analizi gerekmektedir.

Three cases of Patau’s syndrome: Does the clinical triad (microphtalmia, cleft lip/ palate, polydactyly) always accompany the syndrome?

Trisomy 13 (Patau’s syndrome) is a chromosomal disease characterized by midline defects, central nervous system, heart, urogenital system anomalies and motor mental retardation. The prevalence is between 1:10.000 and 1:20.000 births. A vast majority of the patients die in the first year. Patau’s syndrome is characterized by the clinical triad including microphtalmia, cleft lip/palate, and polydactyly. Here, we present three patients who were diagnosed with Patau’s syndrome both clinically and cytogenetically. When considered in terms of the clinical triad of the syndrome, the first patient had microphtalmia / anophthalmia and polydactyly. The second patient had only polydactyly and the third patient had anophthalmia, cleft palate and polydactyly. We would like to emphasize that for clinic diagnosis of Patau’s syndrome, the triad finding should not necessarily be expected in all cases and for the diagnosis of a newborn with multiple anomalies, other signs of the syndrome should be taken into consideration. For the final diagnosis, karyotype analysis is necessary.

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