Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2014 Aug;2(4):156-8.
doi: 10.1002/ccr3.85. Epub 2014 Jun 2.

A case of neonatal Jeune syndrome expanding the phenotype

Bruno Drera  1 , Daniela Ferrari  1 , Pietro Cavalli  2 , Carlo Poggiani  1
Affiliations

A case of neonatal Jeune syndrome expanding the phenotype

Bruno Drera et al. Clin Case Rep. 2014 Aug.

Abstract

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.

Keywords: Asphyxiating thoracic dystrophy; Jeune syndrome; ciliopathy; dwarphism; nephronophthisis; oligohydramnios; renal cyst.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Clinical and radiological findings of the patient. (A and B). The narrow thorax with short ribs and hypoplastic lung. The arms long bones appear mildly shortened. (C) Postaxial hands polydactyly. At X-ray of the pelvis note the typical trident appearance of the acetabula. (D) Kidney ultrasound examination: note the cortical cysts, loss of cortico-medullary differentiation, and increased echogenicity.
See this image and copyright information in PMC

References

    1. De Vries J, Yntema JL, van Die CE, Crama N, Cornelissen EA, Hamel BC. Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur. J. Pediatr. 2010;169:77–88. - PMC - PubMed
    1. Turkel SB, Diehl EJ, Richmond JA. Necropsy findings in neonatal asphyxiating thoracic dystrophy. J. Med. Genet. 1985;22:112–118. - PMC - PubMed
    1. Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr. Nephrol. 2011;26:1039–1056. - PMC - PubMed
    1. Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am. J. Hum. Genet. 2009;84:706–711. - PMC - PubMed
    1. Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, et al. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am. J. Hum. Genet. 2011;89:634–643. - PMC - PubMed