Literature DB >> 26455704

[Caudal regression sequence: clinical-radiological case].

Juan Zepeda T1, Mirna García M2, Jorge Morales S3, Miguel A Pantoja H4, Aníbal Espinoza G5.   

Abstract

Caudal regression syndrome is an uncommon congenital malformation that includes a wide spectrum of clinical presentations. Characterised by caudal musculoskeletal compromise, it can be associated to neurological, gastrointestinal, renal and genitourinary defects. Although the specific aetiology has not been clarified, it has been associated with the presence of maternal diabetes and mutations in homeobox gene HBLX9. Its diagnosis is based on a good prenatal ultrasound detection, detailed physical examination, and post-natal imaging study using radiography and magnetic resonance. Caudal regression syndrome requires multidisciplinary management, and it seems that good metabolic control of gestational diabetes constitutes the best preventive measure available. We present the clinical case and images of a male term newborn, born to a pregestational diabetic mother with poor metabolic control and a prenatal ultrasound diagnosis of lumbar spine, iliac bones and lower limbs malformation. Born in good conditions, the diagnosis was confirmed using X-rays and magnetic resonance.
Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Entities:  

Keywords:  Caudal regression syndrome; Congenital malformation; Diabetes mellitus; Gen HBLX9; HBLX9 gene; Malformación congénita; Síndrome de regresión caudal

Mesh:

Year:  2015        PMID: 26455704     DOI: 10.1016/j.rchipe.2015.07.021

Source DB:  PubMed          Journal:  Rev Chil Pediatr        ISSN: 0370-4106


  2 in total

1.  Perosomus elumbis in a stillborn rhesus macaque (Macaca mulatta): A case report.

Authors:  Tara Patrick; Olga Gonzalez; Edward J Dick; Shyamesh Kumar
Journal:  J Med Primatol       Date:  2020-01-07       Impact factor: 0.667

2.  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

  2 in total

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