tailieunhanh - Báo cáo y học: "Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report. | Travan et al. Journal of Medical Case Reports 2011 5 222 http content 5 1 222 JOURNALOF medical Ur Case REPORTS CASE REPORT Open Access Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room a case report 1 2 1 2 1 r- Ĩ K 1 Laura Travan Vanna Pecile Mariacristina Fertz Antonella Fabretto Pierpaolo Brovedani Sergio Demarini and John M Opitz3 Abstract Introduction Opitz trigonocephaly C syndrome OTCS is a rare malformation syndrome with the following features synostosis of metopic suture craniofacial abnormalities severe mental retardation and a multitude of pathological findings affecting almost every organ system. OTCS is associated with a high mortality rate. Case presentation We describe the case of a Caucasian male baby who died at five months of age during surgical correction of the craniofacial anomaly. Conclusion As previously reported OTCS may have an increased mortality rate during craniofacial surgery. Careful evaluation of surgery risk-benefit ratio is warranted in such patients. Introduction Opitz trigonocephaly C syndrome OTCS is a rare and heterogeneous genetic disorder characterized by synostosis of metopic suture dysmorphic facial features variable mental retardation and other congenital somatic and cerebral anomalies. Morbidity and mortality are very high. Fewer than 60 cases have been reported in the literature mostly as single case reports or small series. We describe a white male baby who died at five months of age during surgery performed to correct the craniofacial anomaly. Case Presentation Our patient was a Caucasian baby born to nonconsan-guineous parents at 39 weeks of gestational age. This was the first pregnancy of a 30-year-old mother with a bicornuate uterus. Pregnancy was complicated by early intrauterine growth retardation antenatal ultrasound assessment was otherwise reported as normal. Labor and delivery were spontaneous. The Apgar score was 9 and 10 respectively at .