TY - CHAP M1 - Book, Section TI - Geleophysic Dysplasia A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas Y1 - 2019 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - A very rare disorder characterized by a child with happy face (gelios = happy, and physis = nature). The facial signs include a small nose, anteverted nostrils, broad nasal bridge, and long thin upper lip with flat and long philtrum. This condition is believed to be a “focal” mucopolysaccharidosis. The presence of dysostosis multiplex-like changes, predominantly in the hands and feet, associated with cardio- and hepatomegaly has been reported. Right ventricular hypertrophy, usually mild (can also be severe) mitral and tricuspid valve stenosis and aortic valve regurgitation is reported as the patient ages. Airway obstruction as a result of progressive tracheal narrowing is reported. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164070602 ER -