Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.
We report on a boy, born to consanguineous parents, who had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of motor neuron cells in the anterior horns of spinal cord. This association, reported in 1979 by Nezelof et al., is a distinctive syndrome. The possibility of an autosomal recessive or an X-linked inheritance is discussed.
Di Rocco
M
M
Instituto G. Gaslini, Genova, Italy.
Reboa
E
E
Barabino
A
A
Larnaout
A
A
Canepa
M
M
Savioli
C
C
Cremonte
M
M
Borrone
C
C
D001176:Arthrogryposis / Q000235:genetics*; D002779:Cholestasis; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology; D008107:Liver Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome