cerebrohepatorenal syndrome

Zellweger syndrome

[zel´weg-er] an autosomal recessive error of metabolism" >inborn error of metabolism characterized by a prominent forehead, large anterior fontanelle, poor muscle tone, hepatomegaly, polycystic kidneys, jaundice, and often calcifications in the cartilaginous ends of long bones. Most affected children die in early infancy. Called also cerebrohepatorenal syndrome. See illustration.

A, Facies of an infant with Zellweger syndrome showing a prominent forehead. B, Radiography of the knee of a newborn infant with Zellweger syndrome showing abnormal punctate calcification of the distal femoral epiphyses. From Mueller and Young, 2001.

Zell·we·ger syn·drome

(zel'weg-ĕr), a metabolic disorder with neonatal onset, characterized by distinctive facies, muscular hypotonia, hepatomegaly with jaundice, renal cysts, epiphyseal stippling of the patellae, cerebral dysmyelination, and neuronal migration defects and psychomotor retardation; there is a perturbation in peroxisomal biogenesis; autosomal recessive inheritance, caused by mutation in any one of several peroxin (PEX) genes on chromosome 6, 7, 8, or 12. Synonym(s): cerebrohepatorenal syndrome

Zell·we·ger syn·drome

Zellweger,

Hans U., U.S. pediatrician, 1909-1990. Fanconi-Albertini-Zellweger syndrome - see under FanconiZellweger syndrome - Synonym(s): cerebrohepatorenal syndrome

单词	cerebrohepatorenal syndrome
释义	DictionarySeesyndrome cerebrohepatorenal syndrome Zellweger syndrome [zel´weg-er] an autosomal recessive error of metabolism" >inborn error of metabolism characterized by a prominent forehead, large anterior fontanelle, poor muscle tone, hepatomegaly, polycystic kidneys, jaundice, and often calcifications in the cartilaginous ends of long bones. Most affected children die in early infancy. Called also cerebrohepatorenal syndrome. See illustration.A, Facies of an infant with Zellweger syndrome showing a prominent forehead. B, Radiography of the knee of a newborn infant with Zellweger syndrome showing abnormal punctate calcification of the distal femoral epiphyses. From Mueller and Young, 2001. Zell·we·ger syn·drome (zel'weg-ĕr), a metabolic disorder with neonatal onset, characterized by distinctive facies, muscular hypotonia, hepatomegaly with jaundice, renal cysts, epiphyseal stippling of the patellae, cerebral dysmyelination, and neuronal migration defects and psychomotor retardation; there is a perturbation in peroxisomal biogenesis; autosomal recessive inheritance, caused by mutation in any one of several peroxin (PEX) genes on chromosome 6, 7, 8, or 12. Synonym(s): cerebrohepatorenal syndrome Zell·we·ger syn·drome (zel'weg-ĕr), a metabolic disorder with neonatal onset, characterized by distinctive facies, muscular hypotonia, hepatomegaly with jaundice, renal cysts, epiphyseal stippling of the patellae, cerebral dysmyelination, and neuronal migration defects and psychomotor retardation; there is a perturbation in peroxisomal biogenesis; autosomal recessive inheritance, caused by mutation in any one of several peroxin (PEX) genes on chromosome 6, 7, 8, or 12. Synonym(s): cerebrohepatorenal syndrome Zellweger, Hans U., U.S. pediatrician, 1909-1990. Fanconi-Albertini-Zellweger syndrome - see under FanconiZellweger syndrome - Synonym(s): cerebrohepatorenal syndrome AcronymsSeechronic
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