Family with probable achondrogenesis and lipid inclusions in fibroblasts.
D000130:Achondroplasia / Q000175:diagnosis / Q000235:genetics*; D000653:Amniotic Fluid / Q000032:analysis; D002478:Cells, Cultured; D002784:Cholesterol / Q000032:analysis / Q000097:blood; D002855:Chromatography, Thin Layer; D005260:Female; D005313:Fetal Death; D005347:Fibroblasts; D005817:Genetic Counseling; D006801:Humans; D002479:Inclusion Bodies; D007231:Infant, Newborn; D008055:Lipids; D008297:Male; D008854:Microscopy, Electron; D010375:Pedigree; D010743:Phospholipids / Q000032:analysis; D011247:Pregnancy; D013109:Sphingomyelins / Q000032:analysis; D013194:Staining and Labeling
D008055:Lipids; D010743:Phospholipids; D013109:Sphingomyelins; D002784:Cholesterol