Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolatedalkyldihydroacetonephosphate acyltransferase synthase deficiency

Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punc tata (RCDP) are reviewed. A case is presented with a family having one daug hter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. B iochemical test values are presented for the pregnancies and daughter. Post -mortem tests of one fetus of a terminated pregnancy showed that radiologic examination could not make the diagnosis of RCDP. We conclude that biochem ical or molecular testing is necessary to accurately diagnose this type of RCDP prenatally. Copyright (C) 1999 John Wiley & Sons, Ltd.