A case of neonatal Jeune syndrome expanding the phenotype

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 fai...

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Detalles Bibliográficos
Autores principales: Drera, Bruno, Ferrari, Daniela, Cavalli, Pietro, Poggiani, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184654/
https://www.ncbi.nlm.nih.gov/pubmed/25356276
http://dx.doi.org/10.1002/ccr3.85
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author Drera, Bruno
Ferrari, Daniela
Cavalli, Pietro
Poggiani, Carlo
author_facet Drera, Bruno
Ferrari, Daniela
Cavalli, Pietro
Poggiani, Carlo
author_sort Drera, Bruno
collection PubMed
description 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.
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spelling pubmed-41846542014-10-29 A case of neonatal Jeune syndrome expanding the phenotype Drera, Bruno Ferrari, Daniela Cavalli, Pietro Poggiani, Carlo Clin Case Rep Case Reports 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. Blackwell Publishing Ltd 2014-08 2014-06-02 /pmc/articles/PMC4184654/ /pubmed/25356276 http://dx.doi.org/10.1002/ccr3.85 Text en © 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Drera, Bruno
Ferrari, Daniela
Cavalli, Pietro
Poggiani, Carlo
A case of neonatal Jeune syndrome expanding the phenotype
title A case of neonatal Jeune syndrome expanding the phenotype
title_full A case of neonatal Jeune syndrome expanding the phenotype
title_fullStr A case of neonatal Jeune syndrome expanding the phenotype
title_full_unstemmed A case of neonatal Jeune syndrome expanding the phenotype
title_short A case of neonatal Jeune syndrome expanding the phenotype
title_sort case of neonatal jeune syndrome expanding the phenotype
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184654/
https://www.ncbi.nlm.nih.gov/pubmed/25356276
http://dx.doi.org/10.1002/ccr3.85
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