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Williams syndrome (nonfamilial supravalvular aortic stenosis) is characterized by peculiar facies, short stature, and mental retardation.7'8'14'51'83'178'183'231'232 The chin is small (hypoplastic mandible), the mouth is large, the lips are patu-lous, the nose is blunt and upturned, the eyes are widely set with occasional internal strabismus, the forehead is broad, the cheeks are baggy (Fig. 7-9), the teeth are malformed, and the bite is abnormal (malocclusion) (Fig. 7-10). The patients have friendly temperaments and deep, somewhat metallic voices that further emphasize their similarities.8 Adults with Williams syndrome are relatively short and tend to have lordosis, kyphoscoliosis, and joint abnormalities of the lower limbs that result in a stiff, awkward gait.163 The brow is broad, with prominent supraorbital ridges. The nasal tip is broad and the nares are anteverted. Flat molar regions accentuate the prominence of a wide mouth with full lips, small jaw, and long philtrum.163

XO Turner syndrome (see Chapter 8) represents another distinctive physical appearance that coincides with a bicuspid aortic valve.155 Congenital heart disease associated with Turner syndrome has been known since the first description by Morgagni and is coupled with different patterns of X monosomies.172 Abnormal karyotypes consist of 45X mosaicism and X structural abnormalities.173 Patients with severe dysmorphic features have a significantly higher prevalence of congenital heart disease,173 and 45X Turner

Congenital Heart Disease

Figure 7-9

Typical facial appearance of a 20-month-old girl (A) and a 24-month-old boy (B and C) with nonfamilial supravalvular aortic stenosis and pulmonary artery stenosis (Williams syndrome). The children closely resemble each other. Both were mentally retarded and had large mouths, patulous lips, small chins, baggy cheeks, blunt upturned noses, wide-set eyes, left internal strabismus, and malformed teeth.

Figure 7-9

Typical facial appearance of a 20-month-old girl (A) and a 24-month-old boy (B and C) with nonfamilial supravalvular aortic stenosis and pulmonary artery stenosis (Williams syndrome). The children closely resemble each other. Both were mentally retarded and had large mouths, patulous lips, small chins, baggy cheeks, blunt upturned noses, wide-set eyes, left internal strabismus, and malformed teeth.

patients have the highest prevalence.173 X structural abnormalities are associated with an increased prevalence of bicuspid aortic valve,173 whereas X deletion carries no increase in the incidence of congenital heart disease.172 In Noonan syndrome (Turner phenotype with normal genotype), obstruction to left ventricular outflow is due to hypertrophic obstructive cardiomyopathy (Fig. 7-11).

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