Literature DB >> 1329011

[Sacrum abnormalities and neural tube closure defect: different manifestations of a same genetic disease?].

E Cavero Vargas1, H Plauchu, A Rebaud, O Claris, J P Chappuis, G Mellier, B Salle.   

Abstract

The authors report the case of a full-term female infant exhibiting an anterior meningocele, combined with a hemi-sacrum and an anal dysfunction. Both her father and brother had the same although less pronounced abnormalities. The father's sister was anencephalic. This case, together with previously published data, suggests that sacrum malformations and neural tube defects may derive from a unique dominant autosomal gene with variable expressivity.

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Mesh:

Year:  1992        PMID: 1329011

Source DB:  PubMed          Journal:  Pediatrie        ISSN: 0031-4021


  3 in total

Review 1.  Long-term functional outcomes in children with Currarino syndrome.

Authors:  Atsushi Yoshida; Kiki Maoate; Russell Blakelock; Stephen Robertson; Spencer Beasley
Journal:  Pediatr Surg Int       Date:  2010-05-15       Impact factor: 1.827

Review 2.  Autosomal dominant sacral agenesis: Currarino syndrome.

Authors:  S A Lynch; Y Wang; T Strachan; J Burn; S Lindsay
Journal:  J Med Genet       Date:  2000-08       Impact factor: 6.318

3.  Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

Authors:  D M Hagan; A J Ross; T Strachan; S A Lynch; V Ruiz-Perez; Y M Wang; P Scambler; E Custard; W Reardon; S Hassan; P Nixon; C Papapetrou; R M Winter; Y Edwards; K Morrison; M Barrow; M P Cordier-Alex; P Correia; P A Galvin-Parton; S Gaskill; K J Gaskin; S Garcia-Minaur; R Gereige; R Hayward; T Homfray
Journal:  Am J Hum Genet       Date:  2000-04-04       Impact factor: 11.025

  3 in total

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