Turner's syndrome

(Henry Hubert Turner, 1892 - 1970, American endocrinologist), a chromosomal disorder characterized by a female phenotype and a 45,XO karyotype. Most affected fetuses are aborted spontaneously in the first trimester of pregnancy.

Affected newborn infants may have oedema of the hands and feet and large oedematous masses about the neck. Later in life, patients fail to develop secondary sex characteristics, have primary amenorrhoea, and have small ovaries. Among the clinical manifestations are lymphoedema of the lower extremities, loose skin about the neck, congenital anomalies of the heart, great vessels and kidneys, short stature, and laterally displaced nipples on a shieldlike chest.

Persons with Turner's syndrome may have many radiographic abnormalities. Osteoporosis is most evident in the spine, carpus and tarsus. Fusion of the epiphyses is delayed. Short metacarpal bones, especially the fourth, and short metatarsal bones can be observed, as can drumstick phalanges. Other abnormalities include deformity of the knees with flattening of the medial tibial plateau, beaking of the proximal portions of the tibia, enlargement of the medial femoral condyle, cubitus valgus, thin clavicles and ribs, vertebral body irregularities, and abnormalities of the odontoid process and atlas. Brachycephaly, small facial bones, mandibular prominence, enlarged sinuses, and calcification in the petroclinoid ligaments have also been observed.

DR