A case of neonatal Jeune syndrome expanding the phenotype

Clinical Case Reports

Bruno Drera²  Daniela Ferrari²  Pietro Cavalli¹ 

[1] Clinical Genetics, Azienda Istituti Ospitalieri di Cremona, Cremona, Italy;Neonatal Intensive Care Unit, Azienda Istituti Ospitalieri di Cremona, Cremona, Italy

关键词: Asphyxiating thoracic dystrophy;    ciliopathy;    dwarphism;    Jeune syndrome;    nephronophthisis;    oligohydramnios;    renal cyst;   

DOI  :  10.1002/ccr3.85

来源: Wiley

【 摘 要 】

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.

【 授权许可】

CC BY-NC-ND   
© 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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.