Extremely Rare Syndrome: Pseudotrisomy 13

Mehmet Davutoglu, Ali Murat Kalender, Fuat Ozkan, Esra Bebek, Muhammed Udurgucu, Tahir Dalkiran


Pseudotrisomy 13 syndrome is extremely rare, characterized by holoprosoncephaly, microcephaly, anophthalmy, single athresic nasi, cleft palate and extremity anomalies such as polydactyly and olygodactyly with a normal karyotype. We have report a newborn pseudotrisomy 13 patient, a normal karyotype 46 XY. Clinical and laboratory findings were diagnosed with pseudotrisomy 13 syndrome. The case died after 12 days due to cardio-respiratory failure.

J Med Cases. 2012;3(3):193-194
doi: https://doi.org/10.4021/jmc575w


Pseudotrisomy 13 syndrome; Newborn; Olygodactyly

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