RHIZOMELIC CHONDRODYSPLASIA PUNCTATA-LIKE PHENOTYPE IN A NEWBORN MALEWITH NORMAL PEROXISOMAL FUNCTION

A newborn male with the characteristic phenotype of classic rhizomelic chondrodysplasia punctata (RCDP) and with the usual and severe radiog raphic skeletal abnormalities is described. The parents were young, he althy, and not consanguineous; the mother had not used licit or illici t drugs, alcohol, or tobacco during pregnancy and had not been exposed to radiation or teratogenic chemicals. The clinical phenotype led us to study peroxisomal function. Plasmalogen content in erythrocytes, me mbrane, and fibroblasts; dihydroxyacetone phosphate acyltransferase (D HAP-AT), alkyldehydroxyaceton phosphate synthetase (a gift from Profes sor Henk van der Boch, Utrech) in fibroblasts; and phytanic and prista nic acids in plasma showed normal values. Immunocytofluorescence study with antibodies against peroxisomal membrane showed normal organelles . We found no reference in the literature of a case of RCDP with norma l peroxisomal functions, but non-CDP has been described with peroxisom al dysfunction. This phenotype (RCDP) may be due to other metabolic er ror.