The cerebro-hepato-renal (Zellweger's) syndrome: report of four cases. 1978

S Bartoletti, and S L Armfield, and J Ledesma-Medina

Four cases of cerebro-hepato-renal syndrome are described. Radiographic findings of scimitar-shaped calcifications of the patellae and stippled cartilage califications have previously been described. We noted calcifications in the area of the greater trochanters in 2 of our patients, and bell-shaped thoraces in all patients. One of our patients is the longest survivor of the children affected by this syndrome.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007668 Kidney Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. Kidneys
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D008297 Male Males
D010329 Patella The flat, triangular bone situated at the anterior part of the KNEE. Knee Cap,Kneecap,Knee Caps,Kneecaps,Patellas
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D001921 Brain The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. Encephalon
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
D002358 Cartilage, Articular A protective layer of firm, flexible cartilage over the articulating ends of bones. It provides a smooth surface for joint movement, protecting the ends of long bones from wear at points of contact. Articular Cartilage,Articular Cartilages,Cartilages, Articular

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