title: Spondyloepiphyseal dysplasia congenita: case report.
mesh_terms: D001857:Bone Matrix / Q000378:metabolism; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D005799:Genes, Dominant; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007231:Infant, Newborn; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography