Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects.
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.
Baglaj
Maciej
M
Department of Surgical Pediatrics, Royal Hospital for Sick Children, Glasgow G3 8SJ, Scotland.
King
Juliette
J
Carachi
Robert
R
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics / Q000601:surgery; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D045822:Intestinal Volvulus / Q000235:genetics / Q000601:surgery; D008297:Male; D009030:Mosaicism; D011183:Postoperative Complications; D011247:Pregnancy; D011272:Pregnancy, Multiple; D011296:Prenatal Diagnosis; D018570:Risk Assessment; D013577:Syndrome; D016896:Treatment Outcome