Fact-sheet: Turner syndrome
Updated on 05/21/2025 at 2:26 PM
Note : 0/10
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Definition
The most common genetic disorder in females, defined by monosomy X:
- complete 45XO (or 45X),
- partial,
- or mosaic.
Clinical features
Increased risk of autoimmune disease
Hypertension and cardiovascular abnormalities: coarctation of aorta, aortic bicuspidia
Short stature, scoliosis
Radiography
Scoliosis
Short fourth metacarpal
Decreased scapholunate angle
Madelung deformity
Cubitus valgus
Ultrasound
Cystic hygroma
Increased nuchal translucency and thickness
Coarctation of aorta
Aortic bicuspidia
Omphalocele
Horseshoe or pelvic kidney
Mild intrauterine growth restriction
Hydrops fetalis
Short fetal limbs
Hypertrophic pyloric stenosis
CT
Aortic dissection
Coarctation of aorta
