[Caudal regression sequence: clinical-radiological case]. / Secuencia de regresión caudal: caso clínico-radiológico.
Rev Chil Pediatr
; 86(6): 430-5, 2015.
Article
em Es
| MEDLINE
| ID: mdl-26455704
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Região Sacrococcígea
/
Anormalidades Múltiplas
/
Ultrassonografia Pré-Natal
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Diabetes Gestacional
/
Meningocele
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Adult
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Female
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Humans
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Male
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Newborn
/
Pregnancy
Idioma:
Es
Revista:
Rev Chil Pediatr
Ano de publicação:
2015
Tipo de documento:
Article
País de publicação:
Chile