Extremely Rare Syndrome: Pseudotrisomy 13

Abstract

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