scholarly journals Obstructive Renal Failure Caused by Bilateral Renal Candidiasis and Hypoplastic Renal Pelvises in a Preterm Infant: Case Presentation and Review of the Literature

2016 ◽  
Vol 5 (2) ◽  
Author(s):  
Farhad Abolhassan Choobdar ◽  
Elham Zarei ◽  
Mohammad Reza Navaeifar ◽  
Ali Manafi Anari ◽  
Behzad Haghighi Aski
Keyword(s):  
Renal Failure ◽  
Preterm Infant ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Renal Candidiasis ◽  
Infant Case ◽  
Obstructive Renal Failure

Polhydramnios and obstructive renal failure: A case report and review of the literature

1985 ◽  
Vol 152 (7) ◽  
pp. 883-885 ◽  
Author(s):  
Anthony M. Vintzileos ◽  
Garry W. Turner ◽  
Winston A. Campbell ◽  
Paul J. Weinbaum ◽  
Sheila M. Ward ◽  
...  
Keyword(s):  
Renal Failure ◽  
Case Report ◽  
Review Of The Literature ◽  
Obstructive Renal Failure

Case 1: Unexpected muscular hypotonia and need for mechanical ventilation in a preterm infant (Case Presentation)

2008 ◽  
Vol 97 (12) ◽  
pp. 1602-1603 ◽  
Author(s):  
Niels Rochow ◽  
Helmut Küster ◽  
Christoph Bandt ◽  
Ulrich Hoffmann ◽  
Christoph Fusch
Keyword(s):  
Mechanical Ventilation ◽  
Preterm Infant ◽  
Muscular Hypotonia ◽  
Case Presentation ◽  
Infant Case

scholarly journals Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Clinical Manifestations ◽  
Large Deletion ◽  
Terminal Deletion ◽  
Facial Features ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Contiguous Gene ◽  
Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

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