Abstract
johanson-Blizzar(l s,nclrolne ( ' 113S) is a tare aUtOS01-11-A recessive conclition characterizecl by pathognonionic facies ancl a constellation of other feattires inost notal I T exocrine pancreatic insLifficiency, otigoclontia, grox\7th retarclation, hearing loss, inental retarclation, scalp clefects, li,pothyroiclisin and iniperforate arlLts. We report on an infant with classical J13S Who also has UnUSUAV severe neonatal cholestatic liver cliscase that progressecl to liver fibrosis ancl portal hypertension. Se(ILlencing of UBRI re\,eatecl a pteViotjSl\7 tini-tported 1101110Z 7gOLIS 11-liSSelISC InUtatiOn in a consensLis splice acceptor site (IVS12-IG > A). This report is the first to clocni-nent severe li%7el' ilj\1ol\eeljjeljt in JBS ancl raises the possibility that this coLilcl he a rare bLlt geliLline association. (c) 2008 Wilev-Liss. Inc.