کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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4158591 | 1273813 | 2008 | 4 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects](/preview/png/4158591.png)
Pallister-Killian syndrome (PKS) is a rare mosaic genetic disorder defined by the presence of isochromosome for the short arm of chromosome 12. The authors report 2 new cases of PKS with prenatal diagnosis of tetrasomy 12p made by cytogenetic study of amniocytes. Typical dysmorphic craniofacial features were noted postnatally. Both newborns were referred to a surgical department because of congenital anomalies requiring operative management. One had an imperforate anus with an anocutaneous fistula and underwent minor anorectoplasty on day 2 of life. The second newborn required emergency laparotomy because of malrotation with midgut volvulus. This is the first report of clinical manifestation of malrotation in a patient with PKS. The authors undertook a detailed review of reported to date cases of PKS with special emphasis on its surgical aspects.
Journal: Journal of Pediatric Surgery - Volume 43, Issue 6, June 2008, Pages 1218–1221