TY - CHAP M1 - Book, Section TI - Waardenburg Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas Y1 - 2019 N1 - T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is a rare genetic disorder characterized by deafness (represents up to 3% of all cases of children deafness at school age), hypopigmentation of the skin, iris colored differences between eyes, hair and stria vascularis of the cochlea, and the presence of minor defects caused by neural crest anomalies. The most striking characteristic observed in most patients is the presence of two different colored eyes, white forelock and eyelashes, and premature graying of the hair. Other clinical features include a moderate acrocephaly, lack of osseous fusion of the short tubular bones, oligodactyly of the feet, short stature, cyanotic cardiopathy, laryngomalacia, pericardial cysts, rectal prolapse, and deformed ears. Other signs include a hypoplastic maxilla, multiple muscle contractures, limited neck movements, asymmetry of hands, deformity of the first phalanx of the head, absence of the first digit of the foot, and bifid distal phalanges of the second and third toes. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/05 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164087715 ER -