Chromosomal Studies of Patients with Congenital Anomalies Simulating Those of Gonadal Aplasia

Abstract

PERSONS with gonadal aplasia, also called Turner's syndrome,¹ Bonnevie–Ullrich syndrome² and ovarian agenesis,³ are apparent females who consistently have short stature and sexual infantilism.^{4 , 5} In addition they frequently have other multiple congenital anomalies. Haddad and Wilkins⁵ recently reviewed the nonsexual abnormalities of 55 females with this syndrome. A high percentage of these patients had a combination of anomalies, including a shield-like chest, micrognathia, epicanthal folds, high palate, low-set ears, webbed neck, hypoplastic nails, idiopathic hypertension, lymphedema of the hands and feet, cutis laxa, keloid formation, mental retardation and deafness.The cause of the short stature remains unexplained. However, the sexual . . .