Rhizomelic chondrodysplasia punctata--a new clinical variant. 1992

R G Gray, and A Green, and S Chapman, and C McKeown, and R B Schutgens, and R J Wanders
Children's Hospital, Birmingham, UK.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D010831 Phytanic Acid A 20-carbon branched chain fatty acid. In phytanic acid storage disease (REFSUM DISEASE) this lipid may comprise as much as 30% of the total fatty acids of the plasma. This is due to a phytanic acid alpha-hydroxylase deficiency. Acid, Phytanic
D010955 Plasmalogens GLYCEROPHOSPHOLIPIDS in which one of the two acyl chains is attached to glycerol with an ether alkenyl linkage instead of an ester as with the other glycerophospholipids. Phosphatidal Compounds,Plasmalogen,Alkenyl Ether Phospholipids,Compounds, Phosphatidal,Ether Phospholipids, Alkenyl,Phospholipids, Alkenyl Ether
D001792 Blood Platelets Non-nucleated disk-shaped cells formed in the megakaryocyte and found in the blood of all mammals. They are mainly involved in blood coagulation. Platelets,Thrombocytes,Blood Platelet,Platelet,Platelet, Blood,Platelets, Blood,Thrombocyte
D002114 Calcinosis Pathologic deposition of calcium salts in tissues. Calcification, Pathologic,Calcinosis, Tumoral,Microcalcification,Microcalcinosis,Pathologic Calcification,Calcinoses,Calcinoses, Tumoral,Microcalcifications,Microcalcinoses,Tumoral Calcinoses,Tumoral Calcinosis
D002806 Chondrodysplasia Punctata A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. Chondrodystrophia Calcificans Congenita,Conradi-Hunermann Syndrome,Dysplasia Epiphysialis Punctata,Epiphyses, Stippled,Stippled Epiphyses,Chondrodysplasia Punctata 2, X-Linked,Chondrodysplasia Punctata 2, X-Linked Dominant,Conradi Hunermann Happle Syndrome,Conradi-Hunermann-Happle Syndrome,Conradi-Hünermann Syndrome,Conradi-Hünermann-Happle Syndrome,Happle Syndrome,Hunermann-Conradi Syndrome,X-Linked Chondrodysplasia Punctata 2,X-Linked Dominant Chondrodysplasia Punctata,Chondrodysplasia Punctata 2, X Linked,Chondrodysplasia Punctata 2, X Linked Dominant,Conradi Hunermann Syndrome,Conradi Hünermann Happle Syndrome,Conradi Hünermann Syndrome,Conradi-Hunermann-Happle Syndromes,Conradi-Hünermann Syndromes,Conradi-Hünermann-Happle Syndromes,Hunermann Conradi Syndrome,X Linked Chondrodysplasia Punctata 2,X Linked Dominant Chondrodysplasia Punctata
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005260 Female Females
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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