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.
Romero
R
R
Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut.
Ghidini
A
A
Eswara
M S
MS
Seashore
M R
MR
Hobbins
J C
JC
D000328:Adult; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D010641:Phenotype; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome; D014463:Ultrasonography