Pterygium Colli, Isolated

Graham and Smith (1981) described an 11-week old infant evaluated for possible XO Turner syndrome because of pterygium colli. She also showed low posterior hair line, protruding ears with an uplifted lower pinna bilaterally, loose facial skin, epicanthal folds, and a short nose. She did not have peripheral edema, and the remainder of the physical examination was normal. The karyotype was normal. The mother had webbing of the neck with low hair line posteriorly, and photographs revealed a webbed neck in otherwise normal maternal relatives of the preceding 3 generations. Ten of 19 persons at risk were affected, and male-to-male transmission was observed. Graham and Smith (1981) interpreted the webbing of the neck as a nonspecific consequence of early lymphatic obstruction, presumably arising from a lag in the formation of a communication between the developing jugular lymph sac and the internal jugular vein, an event that usually occurs between the fifth and sixth week of gestation. Distention of the jugular lymph sacs leads to overgrowth of the covering skin, rotation of the axis of the developing auricle posteriorly, elevation of the lower pinna, and altered hair directional patterning over the posterior neck.