TY - JOUR
T1 - Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction
T2 - Report of a second family
AU - Di Rocco, M.
AU - Reboa, E.
AU - Barabino, A.
AU - Larnaout, A.
AU - Canepa, M.
AU - Savioli, C.
AU - Cremonte, M.
AU - Borrone, C.
PY - 1990
Y1 - 1990
N2 - 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.
AB - 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.
KW - recessive inheritance
KW - X-linked inheritance
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M3 - Article
C2 - 2248291
AN - SCOPUS:0025010465
VL - 37
SP - 237
EP - 240
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -