Pena A.,Hospital Heroes del Baire |
Davila H.L.,Hospital Heroes del Baire |
Casas Y.,Hospital Heroes del Baire |
Pantoja M.,Centro Municipal Of Genetica |
And 2 more authors.
Clinica e Investigacion en Ginecologia y Obstetricia | Year: 2012
Thanatophoric dwarfism or dysplasia constitutes a rare malformation of the skeletal system that usually causes prenatal demise. Although there are two clinical forms, some alterations such as short and horizontal ribs, deformities of the thorax and short, curved femurs usually occur together. We describe a case of thanatophoric dwarfism prenatally diagnosed in the Municipal Center of Genetics of the Isle of Youth (Cuba). The parents were given genetic counselling and decided to interrupt the pregnancy. The diagnosis was confirmed by pathological analysis. © 2011 Elsevier España, S.L.