American Journal of Medical Genetics 42:140 (1992)
Letter to the Editor Arthrogryposis Multiplex Congenita With Renal and Hepatic Abnormalities To the Editor:
degeneration, failure to thrive, and death in the first weeks of live is inherited as an autosomal recessive disorder. In an earlier issue of the American Journal of Medical REFERENCES Genetics, DiRocco et al. [1990] reported on a male, born Dihcco M, Reboa E, Barabino A, Larnaout A, Canepa M, Savioli C, to consanguineous parents, with clinical, laboratory, Cremonte M, Borrone C (1990): Arthrogryposis, cholestatic pigand postmortem findings identical to those previously mentary liver disease and renal dysfunction-report of a second described in 4 brothers by Nezelof et al. [19791.In a note family. Am J Med Genet 37:237-240 added in proof DiRocco et al. El9901 mentioned that a Nezelof C, Dupart MC, Jaubert F, Eliachar E (1979):A lethal familial syndrome associating arthrogryposis multiplex congenita, renal sister had an identical clinical picture and proposed dysfunction, and a cholestatic and pigmentary liver disease. J Pediautosomal recessive inheritance of this syndrome. atr 94:258-260 We have recently reported [Saraiva et al., 19901 an- Saraiva JM, Lemos C, Gonqalves I, Carneiro F, Mota HC (1990): Arother female, the 4th affected child of first-cousin parthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant. J Pediatr 117:761-763 ents, with all the characteristics of the patients described by Nezelof et al. [1979]. Therefore we conclude Jorge M. Saraiva that the association of arthrogryposis multiplex congenCarlos Lemos ita due to muscular dystrophy secondary to rarefaction Isabel Gonqalves of motor neuron cells in the anterior horns of spinal cord, Henrique C. Mota hepatic cholestasis, and pigment storage with irregular Pediatric Hospital deposits of electrodense fibrogranular matter surCoimbra, Portugal rounded by a membrane in ultrastructural studies, renal dysfunction with metabolic acidosis, polyuria, gluFatima Carneiro cosuria, increased urinary excretion of calcium and Faculty of Medicine, Porto, Portugal inorganic phosphorus and renal tubular vacuolated cell
Received for publication March 4, 1991.
0 1992 Wiley-Liss, Inc.
Letter to the Editor Arthrogryposis Multiplex Congenita With Renal and Hepatic Abnormalities To the Editor:
degeneration, failure to thrive, and death in the first weeks of live is inherited as an autosomal recessive disorder. In an earlier issue of the American Journal of Medical REFERENCES Genetics, DiRocco et al. [1990] reported on a male, born Dihcco M, Reboa E, Barabino A, Larnaout A, Canepa M, Savioli C, to consanguineous parents, with clinical, laboratory, Cremonte M, Borrone C (1990): Arthrogryposis, cholestatic pigand postmortem findings identical to those previously mentary liver disease and renal dysfunction-report of a second described in 4 brothers by Nezelof et al. [19791.In a note family. Am J Med Genet 37:237-240 added in proof DiRocco et al. El9901 mentioned that a Nezelof C, Dupart MC, Jaubert F, Eliachar E (1979):A lethal familial syndrome associating arthrogryposis multiplex congenita, renal sister had an identical clinical picture and proposed dysfunction, and a cholestatic and pigmentary liver disease. J Pediautosomal recessive inheritance of this syndrome. atr 94:258-260 We have recently reported [Saraiva et al., 19901 an- Saraiva JM, Lemos C, Gonqalves I, Carneiro F, Mota HC (1990): Arother female, the 4th affected child of first-cousin parthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant. J Pediatr 117:761-763 ents, with all the characteristics of the patients described by Nezelof et al. [1979]. Therefore we conclude Jorge M. Saraiva that the association of arthrogryposis multiplex congenCarlos Lemos ita due to muscular dystrophy secondary to rarefaction Isabel Gonqalves of motor neuron cells in the anterior horns of spinal cord, Henrique C. Mota hepatic cholestasis, and pigment storage with irregular Pediatric Hospital deposits of electrodense fibrogranular matter surCoimbra, Portugal rounded by a membrane in ultrastructural studies, renal dysfunction with metabolic acidosis, polyuria, gluFatima Carneiro cosuria, increased urinary excretion of calcium and Faculty of Medicine, Porto, Portugal inorganic phosphorus and renal tubular vacuolated cell
Received for publication March 4, 1991.
0 1992 Wiley-Liss, Inc.
