Prenatal findings in a case of spondylocostal dysplasia type I (Jarcho-Levin syndrome).

We report the first prenatal identification using ultrasound of a fetus affected with spondylocostal dysplasia type I, or Jarcho-Levin syndrome, in a patient without a positive family history for this condition. The fetus was initially evaluated because of a low maternal serum alpha-fetoprotein determination. At 23 weeks, we visualized a shortened spine, disorganization of the vertebral bodies, posterior fusion of the ribs, and normal long-bone biometry. Termination of pregnancy was elected. All features identified with ultrasound were confirmed postnatally. The fetus was affected with Jarcho-Levin syndrome, a recessively inherited condition associated with a 25% recurrence rate.