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Revista chilena de pediatría

versión impresa ISSN 0370-4106


ZEPEDA T, Juan et al. Caudal regression sequence: clinical-radiological case. Rev. chil. pediatr. [online]. 2015, vol.86, n.6, pp.426-429. ISSN 0370-4106.

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.

Palabras clave : Caudal regression syndrome; Diabetes mellitus; HBLX9 gene; Congenital malformation.

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