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Turner syndrome

45 XO female (or mosaic XO/XX) incidence 1:2500 liveborn females

short stature, delayed skeletal maturation
osteoporosis
short 4th + 5th metacarpals
broad, "shield" chest
cardiovascular anomalies:
- present in 20%
- 70% are coarctation
ovarian dysgenesis
kidneys: horseshoe kidney, bifid renal pelvis
cystic hygroma (40-80%)

Charles E. Kahn, Jr., MD - 2 February 1995
Last updated: 1 October 2013

Related CHORUS documents:

cystic lymphangioma

short metacarpals

Huntington disease (chorea-athetosis)

agenesis of corpus callosum

massive splenomegaly

scaphoid (navicular) fracture

Copyright © 2013, Charles E. Kahn, Jr.