Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/67427
Título: | Beckwith-Wiedemann syndrome, delayed abdominal wall closure, and neonatal intussusception--case report and literature review |
Autor(es): | Pinto, João Moreira Pereira, Joana Osório, Angélica Enes, Carlos Mota, Céu R. |
Palavras-chave: | Abdominal Wall Anastomosis, Surgical Beckwith-Wiedemann Syndrome Echocardiography Foramen Ovale, Patent Hernia, Umbilical Humans Infant, Newborn Intestinal Obstruction Neonatal intussusception Jejunum Male Omphalocele Abdominal wall defects Beckwith-Wiedemann Syndrome (BWS) |
Data: | Dez-2012 |
Editora: | Taylor & Francis |
Revista: | Fetal and Pediatric Pathology |
Citação: | Moreira-Pinto, J., Pereira, J., Osório, A., Enes, C., & R. Mota, C. (2012). Beckwith-Wiedemann syndrome, delayed abdominal wall closure, and neonatal intussusception–case report and literature review. Fetal and Pediatric Pathology, 31(6), 448-452 |
Resumo(s): | We present the extremely rare case of a male newborn with Beckwith-Wiedemann Syndrome (BWS) presenting as delayed abdominal wall closure and neonatal intussusception. Fetal ultrasound had shown omphalocele that resolved spontaneously. When feeding was attempted, he had various episodes of vomiting. An x-ray showed signs of high bowel obstruction. Jejunal intussusception was found on laparotomy. Enterectomy and primary jejuno-jejunal anastomosis was performed. During post-operative period subtle physical findings became prominent: plain hemangioma, posterior helical indentations, and macroglossia. Cardiac ultrasonography showed a patent foramen oval with small left-to-right shunt. Ultrasonography showed renal hyperplasia. Genetic study showed hypomethylation of DMR2 region of 11p15 chromosome. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/67427 |
DOI: | 10.3109/15513815.2012.659410 |
ISSN: | 1551-3815 |
e-ISSN: | 1551-3823 |
Versão da editora: | https://www.tandfonline.com/doi/abs/10.3109/15513815.2012.659410 |
Arbitragem científica: | yes |
Acesso: | Acesso restrito autor |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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moreira-pinto2012.pdf Acesso restrito! | 346,09 kB | Adobe PDF | Ver/Abrir |