TY - JOUR
T1 - Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome
T2 - Two new cases and review
AU - Abu-Sa'Da, Omar
AU - Barbar, Maha
AU - Al-Harbi, Naffaa
AU - Taha, Doris
PY - 2005/10
Y1 - 2005/10
N2 - ARC syndrome, the association of arthrogryposis, renal tubular dysfunction and cholestasis, is a rare genetic disorder. We report two Saudi infants from two different families with ARC syndrome. Magnetic resonance imaging of the brain of one of the infants showed lissencephaly, a previously unreported finding in this syndrome. We also review 39 ARC cases reported in the literature using the Medline database from January 1966 to September 2004.
AB - ARC syndrome, the association of arthrogryposis, renal tubular dysfunction and cholestasis, is a rare genetic disorder. We report two Saudi infants from two different families with ARC syndrome. Magnetic resonance imaging of the brain of one of the infants showed lissencephaly, a previously unreported finding in this syndrome. We also review 39 ARC cases reported in the literature using the Medline database from January 1966 to September 2004.
KW - Arthrogryposis
KW - Cholestasis
KW - Consanguinity
KW - Fanconi syndrome
KW - Renal tubular acidosis
UR - http://www.scopus.com/inward/record.url?scp=25844507433&partnerID=8YFLogxK
U2 - 10.1097/00019605-200510000-00005
DO - 10.1097/00019605-200510000-00005
M3 - Review article
C2 - 16155421
AN - SCOPUS:25844507433
SN - 0962-8827
VL - 14
SP - 191
EP - 196
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
IS - 4
ER -