A case of neonatal Jeune syndrome expanding the phenotype.
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ABSTRACT:
SUBMITTER: Drera B
PROVIDER: S-EPMC4184654 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Publications
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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