A case of neonatal Jeune syndrome expanding the phenotype.

ABSTRACT:

Key clinical message

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.

SUBMITTER: Drera B 

PROVIDER: S-EPMC4184654 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature