title: Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function.
abstract: A newborn male with the characteristic phenotype of classic rhizomelic chondrodysplasia punctata (RCDP) and with the usual and severe radiographic skeletal abnormalities is described. The parents were young, healthy, and not consanguineous; the mother had not used licit or illicit 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, membrane, and fibroblasts; dihydroxyacetone phosphate acyltransferase (DHAP-AT), alkyldehydroxyaceton phosphate synthetase (a gift from Professor Henk van der Boch, Utrech) in fibroblasts; and phytanic and pristanic 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 normal peroxisomal functions, but non-CDP has been described with peroxisomal dysfunction. This phenotype (RCDP) may be due to other metabolic error.
authors.affiliation: Department of Paediatrics, Hospital de Crianças Maria Pia, Portugal.
authors.forename: C R
authors.initials: CR
authors.lastname: Mota
authors.forename: A
authors.initials: A
authors.lastname: Vilarinho
authors.forename: A
authors.initials: A
authors.lastname: Nogueira
authors.forename: M R
authors.initials: MR
authors.lastname: Lima
mesh_terms: D000217:Acyltransferases / Q000097:blood; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000097:blood / Q000150:complications / Q000000981:diagnostic imaging*; D004099:Dihydroxyacetone Phosphate / Q000097:blood; D004392:Dwarfism / Q000000981:diagnostic imaging*; D017809:Fatal Outcome; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D010831:Phytanic Acid / Q000097:blood; D010955:Plasmalogens / Q000097:blood; D011859:Radiography; D012131:Respiratory Insufficiency / Q000209:etiology
chemical_list: D005227:Fatty Acids; D010955:Plasmalogens; D010831:Phytanic Acid; D004099:Dihydroxyacetone Phosphate; C002844:pristanic acid; D000217:Acyltransferases