Jarcho-Levin syndrome presenting as neural tube defect: report of four cases and pitfalls of diagnosis

Abstract

Jarcho-Levin syndrome (JLS) causes severe vertebral and thoracic deformity and has an autosomal-recessive mode of inheritance. Prenatal diagnosis may be difficult in some cases without the history of an affected baby. We present 4 cases of JLS with neural tube defects as the prominent finding. In 2 of them the deformity of the thorax was minimal and was not detected by ultrasonography. Rib anomalies were revealed with radiological and pathological examinations after the termination. The location of the vertebral defect may be the determinant factor for the severity of the thoracic deformity. The real recurrence risk could only be found out after postnatal examinations in cases with neural tube defects.