Arthrogryposis associated with renal tubular dysfunction and cholestatic liver disease has been recently recognized as a new clinical syndrome (ARC syndrome). At least 13 families has already been described; high parental consanguinity and familial recurrence suggest autosomal recessive inheritance. We report on a new male patient affected by the syndrome who died at age 6.5 months. Since ichtyotic skin seems to be an important marker of the disease we propose to change the acronym from ARC to ARCI.
Arthrogryposis, renal tubular dysfunction, cholestasis and ichthyosis (ARCI) syndrome: Report of a new patient and review of the literature
SILVESTRO, Leandra;
1997-01-01
Abstract
Arthrogryposis associated with renal tubular dysfunction and cholestatic liver disease has been recently recognized as a new clinical syndrome (ARC syndrome). At least 13 families has already been described; high parental consanguinity and familial recurrence suggest autosomal recessive inheritance. We report on a new male patient affected by the syndrome who died at age 6.5 months. Since ichtyotic skin seems to be an important marker of the disease we propose to change the acronym from ARC to ARCI.
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