Postmortem Computed Tomography in a Case of Apert Syndrome Correlation With Conventional Autopsy and Prenatal Ultrasound

作者：Patel Bijal^*; Suchet Ian

来源：Ultrasound Quarterly, 2010, 26(4): 249-253.

DOI：10.1097/RUQ.0b013e3181fe7484

• Apert syndrome
• skeletal dysplasias
• craniosynostosis

Background: There have been very few small studies or case reports in the literature considering noninvasive postmortem imaging as supplement to autopsy, especially in fetuses with skeletal dysplasias. Apert syndrome accounts for 4.5% of all patients with craniosynostotic syndromes. It is classically characterized by the triad of coronal craniosynostosis, midfacial hypoplasia, and symmetric bony syndactyly of the hands and feet.
Purpose: Illustrate the accuracy of a postmortem computed tomography compared with a conventional autopsy as well as review common imaging findings in a case of prenatally diagnosed Apert syndrome.
Case: A 31-year-old woman was seen for a routine prenatal ultrasound. A craniofacial syndrome was suspected by prenatal ultrasound, and the anomalies raised the suspicion of Apert syndrome. After genetic counseling, it was chosen to terminate the pregnancy. A postmortem computed tomographic scan was performed, followed by a conventional autopsy that confirmed the findings.
Discussion: Computed tomography provides many advantages in postmortem assessment. Postmortem imaging cannot replace conventional autopsy but is superior in axial and appendicular skeleton assessment. These studies provide supplemental information that may guide the autopsy. In situations where the parents wish not to pursue an autopsy, postmortem imaging can provide useful clinical information.

• 出版日期2010-12