Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings

Turkish Journal of Pediatrics

Volumn 47, Issue 1, 2005, Pages 67-70

  Tekin, Neslihan ^a   Durmuş Aydoǧdu, Sultan ^a   Dinleyici, Ener Çaǧri ^a   Bör, Özcan ^a   Bildirici, Kismet ^a   Akşit, Arif ^a  

^a OSMANGAZI UNIVERSITY MEDICAL FACULTY   (Turkey)

Author keywords

ARC; Arthrogryposis multiplex congenita; Cholestasis; Renal tubular dysfunction

Indexed keywords

FRESH FROZEN PLASMA; MEDIUM CHAIN TRIACYLGLYCEROL; RANITIDINE; URSODEOXYCHOLIC ACID;

ARC SYNDROME; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHOLESTASIS; CLINICAL FEATURE; CONSANGUINITY; DECOMPRESSION; FANCONI RENOTUBULAR SYNDROME; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; JOINT CONTRACTURE; KIDNEY DYSFUNCTION; MALE; NEWBORN PERIOD; OBSTRUCTIVE JAUNDICE; RARE DISEASE; SIBLING; SKELETON MALFORMATION; SYNDROME DELINEATION; TUBULAR DYSFUNCTION; TURKEY (REPUBLIC);

ARTHROGRYPOSIS; CHOLESTASIS; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; JAUNDICE, OBSTRUCTIVE; KIDNEY; LIVER; MALE; SIBLINGS; SYNDROME; TURKEY;

EID: 17844403726     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Lutz-Richner AR, Landolt RF. Familiare Gallengangsmissbildungen mit tubularer Nİereinsuffuzienz. Helv Paediatr Acta 1973; 28: 1-12.
2. Nezelof C, Dupart MC, Jaubert F, Eliachar E. A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease. J Pediatr 1979; 94: 258-260.
3. Horslen SP, Quarrell OW, Tanner MS. Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. J Med Genet 1994; 31: 62-64.
4. Di Rocco M, Reboa E, Barabino A, et al. Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family. Am J Med Genet 1990; 37: 237-240.
5. Di Rocco M, Callea F, Police B, Faraci M, Campiani F, Borrone C. Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients in three Italian families. Eur J Pediatr 1995; 154: 835-839.
6. Saraiva JM, Lemos C, Goncalves I, Cameira F, Motta HC. Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant. J Pediatr 1990; 117: 761-763.
7. Papadia F, Police L, Natale B, Bellantuono R, Conti P, Carnevale F. Biliary malformations with renal tubular insufficiency in two male infants: third family report. Clin Genet 1996; 49: 267-270.
8. Abdullah MA, Al-Hasnan Z, Okamoto E, Abomelha AM. Arthrogryposis, renal dysfunction and cholestasis syndrome. Saudi Med J 2000; 21: 297-299.
9. Denecke J, Zimmer KP, Kleta R, et al. Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature. Klin Padiatr 2000; 212: 77-80.
10. Eastham KM, McKieman PJ, Milford DV, et al. ARC syndrome: an expanding range of phenotypes. Arch Dis Child 2001; 85: 415-420.
11. Coleman AR, Van Hove JL, Morris CR, Rhoads JM, Summar ML. Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)? Am J Genet 1997; 72: 335-338.
12. Gissen P, Johnson CA, Stapelbroek J, et al. ARC syndrome is not allelic to PFIC I and II. Arch Dis Child 2003; 88 (Suppl I). A70-71.