Female phenotype with normal secondary sexual
characteristics (breast and pubic hair growth). Pituitary and ovarian
function is normal, and ovulatory progesterone levels can be detected.
Features can involve the genitourinarysystem (congenital absence of the vagina, rudimentary
uterus, bipartite uterus, hypoplasia of kidneys, ectopic malformed kidneys).
Other frequent signs are short neck, low hair line, short stature, abnormal
rib scapula, abnormal position, and vertebral segmentation anomaly. Hearing
loss can occur. Two sisters with the syndrome have been described, both also
suffering from pulmonary valvular stenosis. Use echocardiography if cardiac
lesions are suspected.