DOI: 10.36347/sasjs.2023.v09i12.009

Pages: 994-996

Thanatophoric dysplasia is a lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limbed dwarfism [1]. The child will present with a short neck, narrow chest, and prominent abdomen. Other anatomical features include a relatively enlarged head with frontal prominence, prominent eyes, hypertelorism, and a depressed nasal bridge. Diagnosis is typically established by ultrasound in the second trimester of pregnancy. In this study, we report a case of this rare entity, emphasizing its anatomical characteristics, anomalies, and clinical profile, along with a relevant literature review.