TABLE 1712 Diagnostic Facies in Infancy and Childhood

Fetal Alcohol Syndrome Congenital Syphilis Congenital Hypothyroidism Facial Nerve Palsy

Babies born to women who are chronic alcoholics are at increased risk for growth deficiency, microcephaly, and mental retardation. Facial characteristics shown here include short palpebral fissures, a wide and flattened philtrum (the vertical groove in the midline of the upper lip), and thin lips.

In utero infection by Treponema pallidum usually occurs after the 16th week of gestation and affects virtually all fetal organs. If it is not treated, 25% of infected babies will die before birth and another 30% shortly thereafter. Signs of illness appear in survivors within the first month of life. Facial stigmata shown here include bulging of the frontal bones and nasal bridge depression (.saddle nose), both due to periostitis; rhinitis from weeping nasal mucosal lesions (snuffles); and a circumoral rash. Mucocutaneous inflammation and fissuring of the mouth and lips (rhagades), not shown here, may also occur as stigmata of congenital syphilis, as may craniotabes tibial periostitis (saber shins) and dental dysplasia (Hutchinson's teeth— see p. 205).

The child with congenital hypothyroidism (cretinism) has coarse facial features, a low-set hair line, sparse eyebrows, and an enlarged tongue. Associated features include a hoarse cry, umbilical hernia, dry and cold extremities, myxedema, mottled skin, and mental retardation. It is important to note that the majority of infants with congenital hypothyroidism have no physical stigmata; this has led to screening of all newborns in the United States and in most other developed countries, for depressed thyroxin or elevated thyroid-stimulating hormone levels.

Peripheral (lower motor neuron) paralysis of the facial nerve may be due to (1) an injury to the nerve from pressure during labor and delivery, (2) inflammation of the middle ear branch of the nerve during episodes of acute or chronic otitis media, or (3) unknown causes (Bell's palsy). See p. 612 and p. 613. The nasolabial fold on the affected left side is flattened and the eye does not close. This is accentuated during crying, as shown here. Full recovery occurs in >90% of those affected, usually within a few weeks.

Down Syndrome

Battered-Child Syndrome

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