title: Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency.
abstract: Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. Biochemical 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 biochemical or molecular testing is necessary to accurately diagnose this type of RCDP prenatally.
mesh_terms: D000328:Adult; D019883:Alkyl and Aryl Transferases / Q000172:deficiency*; D000649:Amniocentesis; D002356:Cartilage / Q000473:pathology; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000175:diagnosis* / Q000201:enzymology* / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D008297:Male; D008830:Microbodies / Q000378:metabolism; D010955:Plasmalogens / Q000096:biosynthesis / Q000097:blood; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal