Author/Authors :
Hazan, F Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi - Tıbbi Genetik, Turkey , Olukman, Ö Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi - Yenidoğan Kliniği, Turkey , Gökaslan, F Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi - Yenidoğan Kliniği, Turkey , Çalkavur, Ş Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi - Yenidoğan Kliniği, Turkey , Meşe, T Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi - Pediatrik Kardiyoloji, Turkey , Tavlı, V Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi - Pediatrik Kardiyoloji, Turkey , Atlıhan, F Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesi - Yenidoğan Kliniği, Turkey
Title Of Article :
Three cases of Patau’s syndrome: Does the clinical triad (microphtalmia, cleft lip/ palate, polydactyly) always accompany the syndrome?
Abstract :
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.
