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This document reports a case of thanatoporic dysplasia (TD) diagnosed prenatally in a 31-year-old pregnant woman. Ultrasound showed polyhydramnios, shortened long bones, and macrocephaly. After a cesarean delivery at 29 weeks, the infant had features of TD including macrocephaly, short limbs, and died within an hour of birth from respiratory distress. TD is a lethal skeletal dysplasia caused by mutations in the FGFR3 gene, which results in abnormal bone growth. Two subtypes exist but this case was diagnosed

Author

Yudha Ganesa

Language

EN