Antenatal diagnosis of Thanatophoric dysplasia: a case report and review of literature

Keerthi Kocherla, Vasantha Kocherla


Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. Foetus has short neck, narrow thoracic cage and protruberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, platyspondyly, telephone handle femurs. Thanatophoric dysplasia is usually diagnosed using second trimester ultrasonography. We report this rare entity from rural India with emphasis on its anatomical features along with review of relevant literature.


Thanatophoric dysplasia, Lethal bone dysplasia, Prenatal diagnosis, Fibroblast growth factor receptor 3 gene mutation

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