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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

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A case of neonatal Jeune syndrome expanding the phenotype.

Drera Bruno B   Ferrari Daniela D   Cavalli Pietro P   Poggiani Carlo C  

Clinical case reports 20140602 4

<h4>Key clinical message</h4>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. ...[more]

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