Prenatal diagnosis and obstetric management of Larsen syndrome.

BACKGROUND

Larsen syndrome is a disease of generalized defect in collagen formation including multiple disorders of the joints and cardiac anomalies. A review of the literature revealed no previous reported cases in pregnancy.

CASE

A 29-year-old woman with known Larsen syndrome thought to be of the autosomal recessive type presented in pregnancy; second-trimester ultrasound suggested fetal involvement with Larsen syndrome. The patient was followed with serial ultrasounds, and she had pediatric and anesthesiologic consultations. She was delivered by cesarean of a female infant whose neck was immediately stabilized. The infant was then taken to the neonatal intensive care unit, where a diagnosis of Larsen syndrome was confirmed.

CONCLUSIONS

Larsen syndrome, which may be diagnosed prenatally, is a rare and unique condition that requires multidisciplinary care. Obstetric management must take into account the increased anesthetic and surgical risks to the mother and the risk of fetal injury including cervical spine instability. The genetics of Larsen syndrome are also discussed.