RT Book, Section A1 Bissonnette, Bruno A1 Luginbuehl, Igor A1 Engelhardt, Thomas SR Print(0) ID 1164088333 T1 Wolf-Hirschhorn 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=1164088333 RD 2024/10/13 AB This is a congenital medical condition characterized by a distinctive facial dysmorphism resembling in infancy to a “Greek warrior’s helmet appearance.” This is observed in patients with a broad bridge between the nose and the forehead, microcephaly, high forehead with prominent glabella, ocular hypertelorism, epicanthus, highly arched eyebrows, short philtrum, downturned mouth, micrognathia, and poorly formed ears with numerous pits/tags. Developmental delay and mental retardation of variable degree is present in all. Other features include severe muscle hypotonia, seizures, with prenatal onset. Cardiac malformations are observed in half of the cases and consist of septal defects, pulmonary valvular stenosis, and patent ductus arteriosus. Mental retardation is usually severe. Initial reports have suggested a predisposition to the development of malignant hyperthermia; however, subsequent reports have failed to confirm this association although there is no clear position about it. Antibody immunodeficiencies are also common, particularly for the IgA. T-cell immunity is otherwise normal. The disease is associated with a high mortality rate, approximately 30% within the first 2 years of life, with the most common causes of death being lower respiratory tract infections and congenital heart disease/cardiac failure.