Literature DB >> 26266174

Sacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature.

Seema Sharma1, Vipin Sharma2, Bhanu Awasthi3, Manik Sehgal4, Deeksha A Singla5.   

Abstract

Sacral agenesis (part of the caudal regression syndrome) is a rare and severe sacral developmental abnormality. It is a congenital malformation of unknown aetiology with possible involvement of genetic and teratogenic factors. It is described by various degrees of developmental failure, the most extreme and rare being sirenomelia or mermaid syndrome. The associated malformations comprise anorectal, vertebral, urological, genital, and lower limb anomalies. Approximately 15-20% mothers of these children have insulin dependent diabetes mellitus. The case is being reported for its rarity and educative value because prognosis is good in isolated sacral agenesis.

Entities:  

Keywords:  Anomalies; Caudal regression syndrome; Sirenomelia

Year:  2015        PMID: 26266174      PMCID: PMC4525563          DOI: 10.7860/JCDR/2015/13694.6113

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  10 in total

1.  Involvement of the HLXB9 homeobox gene in Currarino syndrome.

Authors:  E Belloni; G Martucciello; D Verderio; E Ponti; M Seri; V Jasonni; M Torre; M Ferrari; L C Tsui; S W Scherer
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

2.  A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.

Authors:  A J Ross; V Ruiz-Perez; Y Wang; D M Hagan; S Scherer; S A Lynch; S Lindsay; E Custard; E Belloni; D I Wilson; R Wadey; F Goodman; K H Orstavik; T Monclair; S Robson; W Reardon; J Burn; P Scambler; T Strachan
Journal:  Nat Genet       Date:  1998-12       Impact factor: 38.330

Review 3.  Traffic jam in the primitive streak: the role of defective mesoderm migration in birth defects.

Authors:  Nils J Herion; J Michael Salbaum; Claudia Kappen
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2014-08-13

4.  Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad.

Authors:  D S O'Riordain; P R O'Connell; W O Kirwan
Journal:  Br J Surg       Date:  1991-05       Impact factor: 6.939

5.  A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.

Authors:  S A Lynch; P M Bond; A J Copp; W O Kirwan; S Nour; R Balling; E Mariman; J Burn; T Strachan
Journal:  Nat Genet       Date:  1995-09       Impact factor: 38.330

6.  Triad of anorectal, sacral, and presacral anomalies.

Authors:  G Currarino; D Coln; T Votteler
Journal:  AJR Am J Roentgenol       Date:  1981-08       Impact factor: 3.959

7.  Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations.

Authors:  H A Heij; R A Nievelstein; I de Zwart; B W Verbeeten; J Valk; A Vos
Journal:  Arch Dis Child       Date:  1996-05       Impact factor: 3.791

8.  Sacral agenesis and neurogenic bladder dysfunction. A case report and review of the literature.

Authors:  I J Van H Fourie
Journal:  S Afr Med J       Date:  1984-01-14

9.  Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.

Authors:  C Crétolle; A Pelet; D Sanlaville; M Zérah; J Amiel; F Jaubert; Y Révillon; L Baala; A Munnich; C Nihoul-Fékété; S Lyonnet
Journal:  Hum Mutat       Date:  2008-07       Impact factor: 4.878

10.  Triad of anorectal stenosis, sacral anomaly and presacral mass: a remediable cause of severe constipation.

Authors:  H A Heij; C G Moorman-Voestermans; A Vos; C M Kneepkens
Journal:  Br J Surg       Date:  1990-01       Impact factor: 6.939

  10 in total
  5 in total

1.  Chilli Sign: Pathognomonic Sign for Ruling Out Sacral Agenesis on Foetal MRI.

Authors:  Vikas K Yadav; Madhavi Nori
Journal:  J Clin Diagn Res       Date:  2017-09-01

Review 2.  Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.

Authors:  Edyta Szumera; Barbara Jasiewicz; Tomasz Potaczek
Journal:  J Spinal Cord Med       Date:  2017-09-06       Impact factor: 1.985

3.  Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis.

Authors:  Jonathan James Hyett Bray; Sebastien Crosswell; Rick Brown
Journal:  BMJ Case Rep       Date:  2017-05-05

4.  Caudal Regression Syndrome with Pressure Ulcers of the Foot: A Case Report.

Authors:  Kosaku Yamamichi; Tsuyoshi Manabe; Tatsuya Uekihara
Journal:  J Clin Diagn Res       Date:  2017-07-01

5.  Growth Hormone (GH) and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome.

Authors:  Jesús Devesa; Alba Alonso; Natalia López; José García; Carlos I Puell; Tamara Pablos; Pablo Devesa
Journal:  Int J Mol Sci       Date:  2017-01-23       Impact factor: 5.923

  5 in total

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