Parathyroid agenesis: prenatal ultrasonographic features and pathological findings

We report a girl with parathyroid agenesis. The gross anomaly of the long bones was diagnosed prenatally by ultrasound. Pregnancy was terminated at 24 weeks of gestation. There were no other apparent system anomalies except parathyroid gland agenesis and long bone abnormalities. This case is the first reported case of parathyroid agenesis with normal thyroid glands and other systems.