TY - CHAP M1 - Book, Section TI - Wolf-Hirschhorn Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/09 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=1164088333 ER -