Baglaj, M., King, J. and Carachi, R. (2008) Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects. Journal of Pediatric Surgery, 43(6), p. 1218. (doi: 10.1016/j.jpedsurg.2008.03.030)
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Publisher's URL: http://dx.doi.org/10.1016/j.jpedsurg.2008.03.030
Abstract
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.
| Item Type: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Carachi, Professor Robert |
| Authors: | Baglaj, M., King, J., and Carachi, R. |
| College/School: | College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing > Clinical Specialities |
| Journal Name: | Journal of Pediatric Surgery |
| ISSN: | 0022-3468 |
| Published Online: | 14 June 2008 |
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