Prenatal diagnosis of episodic tachypnea in an infant with OFD VI.

Abstract excerpt

Episodic tachypnea is a typical neonatal presentation of Joubert syndrome, but may also occur in infants with other anomalies of the cerebellar vermis. Even though fetuses at risk for Joubert syndrome are usually closely followed by ultrasound, this respiratory pattern has only once been describe...

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