Turner Syndrome (typically 45X) is associated with a number of clinical findings.


Findings in the head and neck:

(1) high arched palate

(2) hearing loss

(3) micrognathia

(4) webbed neck

(5) low set, posteriorly rotated ears

(6) low posterior hairline

(7) bushy eyebrows

(8) ptosis

(9) strabismus


Musculoskeletal changes:

(1) short stature

(2) shield chest with widely spaced nipples

(3) scoliosis


Visceral changes:

(1) congenital heart defect (coarctation of the aorta, bicuspid aortic valve, aortic atresia)

(2) renal anomaly (horseshoe, duplications, vascular abnormalities, etc.)


Changes in the hands and feet

(1) puffy hands and/or feet (associated with lymphedema)

(2) cubitus valgus

(3) short fourth metacarpal

(4) nail dysplasia (hyperconvex, narrow, inserted at a sharp angle)



(1) absent, delayed or arrested puberty

(2) infertility



(1) insulin resistance

(2) type II diabetes mellitus

(3) hypothyroidism


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