Physical Appearance

An athletic appearance of the chest and shoulders contrasts with narrow hips and thin legs in patients with coarctation of the aorta.35 When coarctation compromises the origin of the left subclavian artery, the left arm may be smaller than normal. General growth and development are impaired in infants with congestive heart failure.

XO Turner syndrome, with its distinctive physical appearance (Figs. 8-10 and 8-11), prompts suspicion of coarctation of the aorta.35,36,79,162 Chromosomal patterns

45XO, X-mosaicism, and X-structural abnormalities are coupled with other cardiac expressions.40,46,87,139,142

Aortic rupture or dissection in Turner syndrome was mentioned earlier (see Fig. 8-9).7,64,80,129,218,219,241 The typical XO Turner phenotypic female (see Fig. 8-10) is of short stature with webbing of the neck, absent or scanty auxiliary and pubic hair (ovarian dysgenesis), broad chest with widely spaced hypoplastic or inverted nipples, low anterior and posterior hairlines, small chin, prominent ears because

Figure 8-10

Thirteen-year-old girl with 45XO Turner syndrome and coarctation of the aorta. Physical appearance is characterized by short stature, webbing of the neck, absent pubic hair, wide-set nipples, and small chin. Bangs obscure a low anterior hair line.

Figure 8-10

Thirteen-year-old girl with 45XO Turner syndrome and coarctation of the aorta. Physical appearance is characterized by short stature, webbing of the neck, absent pubic hair, wide-set nipples, and small chin. Bangs obscure a low anterior hair line.

of large auricles, cubitus valgus, short fourth metacarpals and metatarsals, distal palmar triaxial radii, narrow hyper-convex nails, and pigmented cutaneous nevi.162,227 Infants with Turner syndrome exhibit lymphedema with loose skin of the neck, puffiness of the dorsum of the hands and feet, and low hairlines.131,162 Congenital heart disease is much more frequent in patients with Turner syndrome with webbing of the neck than in patients with Turner syndrome without webbing,40,131 and coarctation of the aorta is eight times as frequent when Turner syndrome is accompanied by webbing of the neck.131 Noonan syndrome (Turner phenotype with normal genotype) (see Fig. 8-11) is only occasionally accompanied by coarctation of the aorta163 and rarely by ascending aortic aneurysm.162,195,204

The Power Of Charisma

The Power Of Charisma

You knowthere's something about you I like. I can't put my finger on it and it's not just the fact that you will download this ebook but there's something about you that makes you attractive.

Get My Free Ebook


Post a comment