Turner syndrome affects females and is due to the partial or total absence of one X chromosome.
Incidence is around 1 in 3000 live female births
Features include:
- Congenital heart defects – occur in 1/3; most commonly
- Biscuspid aortic valve
- Coarctation of the aorta
- Short stature
- Widely-spaced nipples
- Webbed neck
- Prominent ears
- Short fourth metacarpals
- Cubitus vulgaris
- Lack of spontaneous puberty
- Congenital lymphoedema
Complications associated with Turner syndrome include
- Osteoporosis
- Sensorineural hearing loss
- Aortic root dilation
Diagnosis is by karyotyping
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