Physical Appearance

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Five physical appearances are relevant in patients with pulmonary stenosis and include those in patients with (1) mobile dome-shaped pulmonary valve stenosis in infancy, (2) Noonan syndrome, (3) the rubella syndrome, (4) Williams syndrome, and (5) Alagille syndrome (arteriohepatic dysplasia).

Infants with dome-shaped pulmonary valve stenosis occasionally have chubby, round, bloated faces with highly colored cheeks (Fig. 11-7A) and well-developed fat deposits.122 The digits may be erythematous or frankly red in response to a small or intermittent right-to-left shunt through a patent foramen ovale (see Chapter 16).

Noonan syndrome27,28,85,86 (see Fig. 11-7C-E) is characterized by short stature, webbed neck, pterygium colli, ptosis, hypertelorism, lymphedema, low-set ears, low anterior and posterior hairlines, flat or shield chest, pectus excavatum or carinatum, hyperelastic skin, inguinal hernia, nevi, dystrophic nails, micrognathia, hypospadias, and small undescended or cryptorchid testes.28,71 Approximately one third of Noonan syndrome patients are mentally retarded, and approximately two thirds have congenital heart disease,28,71,104,121 especially dysplastic pulmonary valve stenosis (60%) or hypertrophic cardiomyopathy (20%).24,28,52,71,85,91,104 Successful pregnancy is possible in women with Noonan syndrome.27

The rubella syndrome is characterized by cataracts, retinopathy, deafness, hypotonia, dermatoglyphic abnormalities, and mental retardation.37 Height and weight are usually normal for age despite intrauterine growth retardation. Patent ductus arteriosis (see Chapter 20) and stenosis of the pulmonary artery and its branches are the most frequent types of coexisting congenital heart disease.37

Williams syndrome is characterized by mental retardation and small chin, large mouth, patulous lips, blunt upturned

Limbs Noonan Syndrome

Figure 11-7

A, The chubby round bloated face of an infant with typical mobile dome-shaped pulmonary valve stenosis. B, Facial appearance of arteriohepatic dysplasia (Alagille syndrome) characterized by deeply set eyes, prominent overhanging forehead, and small pointed chin. C, Noonan syndrome in an 18-year-old phe-notypic male with webbing of the neck, low-set ears, abnormal auricles, hypertelorism, and a small chin. D, Low posterior hair line of a neonate with Noonan syndrome. Illustration continued on following page

Figure 11-7

A, The chubby round bloated face of an infant with typical mobile dome-shaped pulmonary valve stenosis. B, Facial appearance of arteriohepatic dysplasia (Alagille syndrome) characterized by deeply set eyes, prominent overhanging forehead, and small pointed chin. C, Noonan syndrome in an 18-year-old phe-notypic male with webbing of the neck, low-set ears, abnormal auricles, hypertelorism, and a small chin. D, Low posterior hair line of a neonate with Noonan syndrome. Illustration continued on following page nose, wide-set eyes, broad forehead, baggy cheeks, and malformed teeth (see Chapter 7). The most frequent coexisting congenital heart disease is pulmonary artery stenosis with supravalvular aortic stenosis (see Chapter 7).

Alagille syndrome, also referred to as arteriohepatic dysplasia or the Alagille-Watson syndrome, is an autosomal dominant disorder with abnormalities of heart, liver, eyes, kidneys, and skeleton.14,18 Facial appearance is characterized by a prominent overhanging forehead, deep-set eyes, and a small pointed chin (see Fig. n-^).14,18,62,120 The most frequent type of coexisting congenital heart disease is stenosis of the pulmonary artery and its branches.18

Figure 11-7

E, Fourth-century grave stele of a young phenotypic male with the short stature and broad neck of Noonan syndrome.

Figure 11-7

E, Fourth-century grave stele of a young phenotypic male with the short stature and broad neck of Noonan syndrome.

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