Gonadal Dysgenesis, Xy Type, With Associated Anomalies

Brosnan et al. (1980) described 2 sisters, aged 1.5 and 8.5 years, with peculiar facies; cardiac, renal, musculoskeletal, and ectodermal anomalies; short stature; streak gonads and mild developmental delay. Both patients were of 46,XY karyotype. Abnormalities included cleft lip and palate, preauricular pits, acromelia with broad hands and feet, and a hypermuscular appearance. Ectodermal defects included 'punched out scalp defects' and unusual position of hair whorls. The nose had a 'squashed down' appearance because of a short columella and small nares.