Flashcards in Turner syndrome Deck (14)
Inner canthal folds, ptosis, blue
Ears, Nose, Mouth
Prominent auricles, low-set; high,
narrow palate; small mandible, Hyperopia and strabismus , chronic otitis media.
Low posterior hairline, webbing
Broad, widely spaced nipples;
Madelung deformity (growth deficiency of the radius, resulting in subluxation of the ulnar wrist), cubitus valgus, genu valgum, and short fourth metacarpals. Scoliosis is present in 10% to 20% of affected girls.
valve (BAV) is the most common defect, occurring in
approximately 16% of all patients and in about 37% of
those who have neck webbing. Approximately 11% have
coarctation (narrowing) of the aorta. High risk of aortic dissection.
peripheral lymphedema and webbed neck, which are sequelae of the pre- natally present cystic hygroma and lymphedema.
Some 30% to 40% of girls who have TS have structural kidney anomalies evident on ultrasonography. The fre- quency varies with karyotype. Anoma- lies may be in the collecting system or may be structural or positional anom- alies of the kidneys (horseshoe kidney, malrotation)
Girls who have TS have an increased tendency toward acquired melanocytic nevi. However, recent study has shown that this does not appear to place them at in- creased risk for melanoma.
Is growth hormone indicated?
Yes. GH has been shown to be effective in increasing adult height, but the magnitude of this benefit has varied among studies
Some degree of spontaneous pubertal progression occurs in approximately 30% of girls who have TS; spontaneous pregnancy may happen in 2% to 5%. However, more than 90% of patients experience gonadal failure.
For most girls who have TS, cognitive and motor development proceed normally, and intelligence is normal. Some girls (ring X karyotype) can be mentally retarded Girls may have some difficulty with math and visual-spatial skills, executive function, and processing speed.
1/2500 live Female births