Abstract

GIRALDO-CUARTAS, Alejandro. Thanatophoric Dysplasia: A case report and review. Rev Colomb Obstet Ginecol [online]. 2008, vol.59, n.4, pp. 349-364. ISSN 0034-7434.

Objective: the article presents a clinical case of a 29-week pregnant woman, with a previous Achondroplasia diagnosis, but after a detail ultrasound scan (2D-3D) a Thanatophoric Dysplasia (DT) was found and confirmed postmortem. Conclusion: the article emphasizes in the scan interpretation of the characteristic findings of the DT and the differential diagnostic with Achondroplasia, as well as the need to focus the restriction growth diagnosis criteria on function of the fetal growth curve, not reassigning a new gestational age with each new scan. Some recommendations respect to ultrasonography report are given.

Keywords : thanatophoric dysplasia; thanatophoric dwarfism.