The phenotype of EZH2 haploinsufficiency-1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability.

Weaver syndrome is a rare overgrowth syndrome with distinct facial features in young children and variable learning disability. Heterozygous missense mutations in EZH2 are present in over 90% of patients with Weaver syndrome but the exact mechanism by which EZH2 mutations cause Weaver syndrome is unknown. We report an 11-year-old boy with a de novo 1.2-Mb deletion at 7q36.1 including EZH2 who has tall stature, significant intellectual disability, and some physical features of Weaver syndrome. Emerging evidence in the literature indicates that Weaver syndrome EZH2 mutations may result in loss of function of the gene and our report suggests that haploinsufficiency of EZH2 may replicate the clinical phenotype of Weaver syndrome.

Operative Planning in Thoracic Surgery: A Pilot Study Comparing Imaging Techniques and Three-Dimensional Printing.

BACKGROUND: Careful preoperative planning in thoracic surgery is essential for positive outcomes, especially in video-assisted thoracic surgery (VATS), where palpation and 3-dimensional (3D) imaging is restricted. This study evaluated the ability of different imaging techniques, such as computed tomography (CT) scanning, maximal intensity projection imaging, 3D reconstruction, and 3D printing, to define the anatomy of the hilar structures before anatomical lung resection. METHODS: All patients undergoing elective lung resections by VATS for cancer under a single surgeon were identified over a 3-month period. The surgeon was asked to record the number of pulmonary artery branches supplying the lobe to be resected by using the preoperative CT scans, maximal intensity projection images, and 3D-reconstructed CT images. The lung hilum in 3 patients was printed. These were then compared with the intraoperative findings. RESULTS: The preoperative imaging of 16 patients was analyzed. The lung hilum was printed in a further 3 patients. Although not statistically significant, the 3D prints of the hilum were the most accurate measurement, with a correlation of 0.92. CT, 3D-reconstructed CT, and maximal intensity projection images tended to underrecognize the number of arterial branches and therefore scored between 0.26 and 0.39 in absolute agreement with the number of arteries found at operation. CONCLUSIONS: 3D printing in the planning of thoracic surgery may suggest a benefit over contemporary available imaging modalities, and the use of 3D printing in practicing operations is being established.