Thanatophoric dysplasia is a disease which is characterized by extreme rhizomelia, bowed long bone, narrow thorax, and relatively large cranium.
The incidence rate is 0.69 per 10,000 births, the most common of fatal neonatal skeletal dysplasia.
We experienced a case of fetal dwarfism on antenatal ultrasound examination and then the baby was delivered by cesarean section. The diagnosis was confirmed to thanatophoric dwarfism by clinical features, radiological findings.
We reported a case of thanatophoric dwarfism with review of literature.
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