[Complete triploidy in a live newborn infant. Review and contribution of a new case]

A preterm newborn with complete triploidy and serious hyaline membrane disease is reported. Characteristic pattern of malformations (large, posterior fontanelle, low-set malformed ears, hypertelorism, exophthalmos, micrognathia, syndactylies of the third and fourth digits of all extremities, micropenis and cryptorchism), and abnormal hematologic features (decreased number of red blood cells and increased RBC indices) suggested diagnosis which was confirmed by a 69,XXY karyotype. As factors with possible causal responsibility authors remark first-month abdominal radiation and chronic exposure to industrial toxic during pregnancy in the mother and no specific trend toward chromosome rupture in the father, and second trimester pre-eclampsia. No familial previous cases of chromosome anomalies nor congenital malformations were referred. From the review of 56 published reports they conclude that triploidy syndrome has a characteristic and recognizable array of phenotype abnormalities.