Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review

被引：20

作者：

Abu-Sa'da, O

Barbar, M

Al-Harbi, N

Taha, D

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Jeddah 21499, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Div Gen Pediat, Jeddah 21499, Saudi Arabia

[3] King Faisal Specialist Hosp & Res Ctr, Div Pediat Gastroenterol, Jeddah 21499, Saudi Arabia

[4] King Faisal Specialist Hosp & Res Ctr, Div Pediat Nephrol, Jeddah 21499, Saudi Arabia

[5] King Faisal Specialist Hosp & Res Ctr, Div Pediat Endocrinol, Jeddah 21499, Saudi Arabia

来源：

CLINICAL DYSMORPHOLOGY | 2005年 / 14卷 / 04期

关键词：

arthrogryposis; Fanconi syndrome; renal tubular acidosis; cholestasis; consanguinity;

D O I：

10.1097/00019605-200510000-00005

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：191 / 196

页数：6

共 17 条

[1]

Abdullah MA, 2000, SAUDI MED J, V21, P297

[2]

Coleman RA, 1997, AM J MED GENET, V72, P335, DOI 10.1002/(SICI)1096-8628(19971031)72:3<335::AID-AJMG16>3.0.CO

[3]

2-U

[4] FANCONI SYNDROME, ICHTHYOSIS, DYSMORPHISM, JAUNDICE AND DIARRHEA - A NEW SYNDROME [J].

DEAL, JE ;

BARRATT, TM ;

DILLON, MJ .

PEDIATRIC NEPHROLOGY, 1990, 4 (04) :308-313

[5] Arthrogryposis, renal tubular dysfunction, cholestasis (ARC)-syndrome: Case report and review of the literature [J].

Denecke, J ;

Zimmer, KP ;

Kleta, R ;

Koch, HG ;

Rabe, H ;

August, C ;

Harms, E .

KLINISCHE PADIATRIE, 2000, 212 (02) :77-80

[6] ARTHROGRYPOSIS, CHOLESTATIC PIGMENTARY LIVER-DISEASE AND RENAL DYSFUNCTION - REPORT OF A 2ND FAMILY [J].

DIROCCO, M ;

REBOA, E ;

BARABINO, A ;

LARNAOUT, A ;

CANEPA, M ;

SAVIOLI, C ;

CREMONTE, M ;

BORRONE, C .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (02) :237-240

[7] ARTHROGRYPOSIS, RENAL DYSFUNCTION AND CHOLESTASIS SYNDROME - REPORT OF 5 PATIENTS FROM 3 ITALIAN FAMILIES [J].

DIROCCO, M ;

CALLEA, F ;

POLLICE, B ;

FARACI, M ;

CAMPIANI, F ;

BORRONE, C .

EUROPEAN JOURNAL OF PEDIATRICS, 1995, 154 (10) :835-839

[8] ARC syndrome: an expanding range of phenotypes [J].

Eastham, KM ;

McKiernan, PJ ;

Milford, DV ;

Ramani, P ;

Wyllie, J ;

van't Hoff, W ;

Lynch, SA ;

Morris, AAM .

ARCHIVES OF DISEASE IN CHILDHOOD, 2001, 85 (05) :415-420

[9]

Franceschini P, 1997, EUR J PEDIATR, V156, P78

[10] Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome [J].

Gissen, P ;

Johnson, CA ;

Morgan, NV ;

Stapelbroek, JM ;

Forshew, T ;

Cooper, WN ;

McKiernan, PJ ;

Klomp, LWJ ;

Morris, AAM ;

Wraith, JE ;

McClean, P ;

Lynch, SA ;

Thompson, RJ ;

Lo, B ;

Quarrell, OW ;

Di Rocco, M ;

Trembath, RC ;

Mandel, H ;

Wali, S ;

Karet, FE ;

Knisely, AS ;

Houwen, RHJ ;

Kelly, DA ;

Maher, ER .

NATURE GENETICS, 2004, 36 (04) :400-404

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