Skin, Head, Face, and Ears
The generalized appearance of the skin should be observed. Depigmented nevi may be a sign of tuberous-sclerosis (Pinto & Bolognia, 1991). Cafe au lait spots may indicate neurofibromatosis or fibrous dysplasia (Chapurlat & Meunier, 2000; Spira & Riccardi, 1987). Hemangiomata on the face or on the extremities could suggest Klippel-Trenaunay syndrome. Palpating the skin and assessing its texture provides the experienced examiner with a clue to generalized ligamentous laxity or other disorders.
Head, Face, and Ears
The fontanelle and sutures should be palpated. Apremature consolidation of sutures is found in Apert syndrome (Anderson et al., 1999). The head circumference should also be measured and recorded on the child's growth chart. Hydrocephalus is characterized by an excessively large head, or a forehead that is disproportionately large, thus making the face appear small. Further characteristics include a thin scalp, distended veins, and a large anterior fontanelle, which is tense and nonpulsatile, with wide sutures.
The overall appearance of the face offers many clues to generalized disorders. Cleft lip or cleft palate is obvious. Examine the appearance, spacing, and function of the eyes, and check for ptosis or coloboma.
Deformities of the outer ear may suggest generalized disease such as Turner syndrome. These children often have a simple helix and redundant folded lobule. An elongated intertragal notch could indicate Rubenstein Taybi syndrome (Allanson & Hennekam, 1997). Check for preauricular sinuses.
J Pediatr Health Care. 2003;17(1) © 2003 Mosby, Inc.
Cite this: Pediatric Orthopedic Physical Examination of the Infant: A 5-Minute Assessment - Medscape - Jan 01, 2003.