%0 Journal Article
%T A case of neonatal Jeune syndrome expanding the phenotype.
%A Drera B
%A Ferrari D
%A Cavalli P
%A Poggiani C
%J Clin Case Rep
%V 2
%N 4
%D Aug 2014
%M 25356276
暂无%R 10.1002/ccr3.85
%X <B>UNASSIGNED: </B>We report the case of a premature, very low birth weight, newborn with stigmata of Jeune syndrome, a rare skeletal dysplasia, and marked renal involvement (i.e. remarkable prenatal oligohydramnios, histologic nephronophthisis-like pattern, macroscopic renal cysts, and renal failure), expanding the phenotype consistent with the continuum of syndromic ciliopathies.