Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.
نویسندگان
چکیده
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.
منابع مشابه
Novel VPS33B mutations of G514S gene cause an arthrogryposis, renal dysfunction and cholestasis syndrome
Introduction: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare multisystem disorder first described in 1979 and recently attributed to mutation in VPS33B, whose product acts in intracellular trafficking. It shows wide clinical variability. The characteristic features of ARC core phenotype include arthrogryposis, spillage of various substances in the urine, and conjugated hy...
متن کاملARC syndrome: an expanding range of phenotypes.
AIM To describe the clinical phenotype in infants with ARC syndrome, the association of arthrogryposis, renal tubular acidosis, and cholestasis. METHODS The medical records for six patients with ARC syndrome were reviewed, presenting over 10 years to three paediatric referral centres. RESULTS All patients had the typical pattern of arthrogryposis. Renal Fanconi syndrome was present in all b...
متن کاملARC syndrome: an expanding range of phenotypes
Aim—To describe the clinical phenotype in infants with ARC syndrome, the association of arthrogryposis, renal tubular acidosis, and cholestasis. Methods—The medical records for six patients with ARC syndrome were reviewed, presenting over 10 years to three paediatric referral centres. Results—All patients had the typical pattern of arthrogryposis. Renal Fanconi syndrome was present in all but o...
متن کاملGlomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome
BACKGROUND Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a multisystem autosomal-recessive disorder caused by defects in the VPS33B and VIPAR genes, involved in localization of apical membrane proteins. Affected children usually die by 1 year of age, often secondary to infective complications. The classic renal manifestation previously described in ARC syndrome is proximal...
متن کاملNovel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.
ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is presented who was referred because of icterus. He also suffered from some additional anomalies, including unilateral choanal a...
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عنوان ژورنال:
- Clinical dysmorphology
دوره 14 4 شماره
صفحات -
تاریخ انتشار 2005