PRENATAL ULTRASONIC DIAGNOSIS OF A CASE OF ELLIS-VAN-CREVELD-SYNDROMEWITH A SINGLE ATRIUM

We present an infant with the lethal Ellis-van Creveld syndrome who wa s diagnosed prenatally from the sonographic detection of a narrow ches t, postaxial hexadactyly of the hands and feet, short limbs and a sing le atrium. The postnatal radiographic features of the skeleton favoure d the diagnosis of Verma-Naumoff type or Saldino-Noonan type short rib -polydactyly syndrome (SRPS). We discuss the criteria for the differen tial diagnosis of patients with SRPS, which can be difficult because o f the overlap of the various phenotypes.