DOI: 10.4103/jasi.jasi_183_26 ISSN: 0003-2778
Thanatophoric Dysplasia in a Fetus: A Rare Case Report and Review of the Literature
S. P. Vinutha, Najma Mobin, V. HarshithaAbstract
Thanatophoric dysplasia (TD) is a severe, lethal skeletal dysplasia characterized by extreme shortening of the limbs (micromelia), a narrow thorax, and macrocephaly. We report a case of a preterm stillborn male fetus at 23 weeks of gestation, born to a second gravida with one previous abortion. It showed a narrow thorax with short ribs, a protuberant abdomen, short upper and lower limbs, curved short femurs, macrocephaly, and flattened vertebral bodies, which are suggestive of TD type 1, with a weight of 500 g. The diagnosis of TD can be established with characteristic clinical or radiologic features and ultrasound examination, with the help of molecular genetic testing.