RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164078455 T1 Mesomelia-Synostoses Syndrome T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e YR 2019 FD 2019 PB McGraw-Hill Education PP New York, NY SN 9781259861789 LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164078455 RD 2024/03/29 AB It is part of a spectrum of diseases called osteochondrodysplasia and is associated with a contiguous gene deletion syndrome. Mesomelic shortness of stature is due to severe skeletal changes in the vertebrae, ankles, knees, and elbows. Patients affected present agenesis of the palate, broad nose, and a small mouth. Other radiological features include progressive intracarpal or intratarsal bone fusion, and fusion of metacarpal bones with proximal phalanges. The presence of ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies complete the clinical presentation.