Literature DB >> 19412520

Prenatal MRI findings of polycystic kidney disease associated with holoprosencephaly.

Mustafa Koplay1, Omer Onbas, Fatih Alper, Bunyamin Borekci.   

Abstract

Holoprosencephaly (HPE) and polycystic kidney disease (PKD) are genetically heterogeneous anomalies which can make up part of various syndromes or chromosomal anomalies. Due to the rapid lethality prognosis, early and precise prenatal diagnosis would be of great value. This case report describes extensive PKD involvement, already present in utero, in a patient with HPE and subdural effusion visible by MR imaging. The detailed anatomic information obtained by the MR imaging can guide the surgical planning and can aid antenatal counseling.

Entities:  

Keywords:  Holoprosencephaly; Magnetic resonance (MR); Polycystic kidney disease; Prenatal diagnosis

Mesh:

Year:  2009        PMID: 19412520      PMCID: PMC2672187          DOI: 10.3348/kjr.2009.10.3.307

Source DB:  PubMed          Journal:  Korean J Radiol        ISSN: 1229-6929            Impact factor:   3.500


  14 in total

1.  Fetal CNS anomalies revealed on ultrafast MR imaging.

Authors:  D Levine; P D Barnes; J R Madsen; J Abbott; G P Wong; C Hulka; T Mehta; W Li; R R Edelman
Journal:  AJR Am J Roentgenol       Date:  1999-03       Impact factor: 3.959

2.  Autosomal recessive polycystic kidney disease (ARPKD).

Authors:  Klaus Zerres; Sabine Rudnik-Schöneborn; Jan Senderek; Thomas Eggermann; Carsten Bergmann
Journal:  J Nephrol       Date:  2003 May-Jun       Impact factor: 3.902

3.  Prenatal diagnosis of genetic renal diseases: breaking the code.

Authors:  J Roume; Y Ville
Journal:  Ultrasound Obstet Gynecol       Date:  2004-07       Impact factor: 7.299

4.  Unusual sonographic features of ARPKD.

Authors:  Maria Okumura; Victor Bunduki; Christina Shiang; Regina Schultz; Marcelo Zugaib
Journal:  Prenat Diagn       Date:  2006-04       Impact factor: 3.050

Review 5.  Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases.

Authors:  Vicente E Torres; Peter C Harris
Journal:  Nat Clin Pract Nephrol       Date:  2006-01

6.  MR imaging of fetal cerebral anomalies.

Authors:  P C Sonigo; F F Rypens; M Carteret; A L Delezoide; F O Brunelle
Journal:  Pediatr Radiol       Date:  1998-04

7.  Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.

Authors:  D M Silverstein; L Zacharowicz; M Edelman; S C Lee; I Greifer; I Rapin
Journal:  Pediatr Nephrol       Date:  1997-12       Impact factor: 3.714

Review 8.  Holoprosencephaly: clinical, anatomic, and molecular dimensions.

Authors:  M Michael Cohen
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2006-09

Review 9.  Polycystic kidney disease: etiology, pathogenesis, and treatment.

Authors:  J R Martinez; J J Grantham
Journal:  Dis Mon       Date:  1995-11       Impact factor: 3.800

Review 10.  Holoprosencephaly.

Authors:  Christèle Dubourg; Claude Bendavid; Laurent Pasquier; Catherine Henry; Sylvie Odent; Véronique David
Journal:  Orphanet J Rare Dis       Date:  2007-02-02       Impact factor: 4.123

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  2 in total

Review 1.  Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy.

Authors:  Rohit Loomba; Parinda H Shah; Robert H Anderson
Journal:  Cureus       Date:  2015-05-21

2.  Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review.

Authors:  Xiuzhen Yao; Weiqun Ao; Jianhua Fang; Guoqun Mao; Chuanghua Chen; Lifang Yu; Huaijie Cai; Chenke Xu
Journal:  BMC Pregnancy Childbirth       Date:  2021-04-12       Impact factor: 3.007

  2 in total

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