Several elements contribute to chest shape, including muscles, bones (ribs, sternum, clavicles, and spine), and underlying organs. Deficiency, hypertrophy, or malformation of any of these structures may produce abnormalities in the appearance of the chest wall. Abnormalities in lung form or function may cause changes in the chest shape; conversely, alterations in the size or shape of the thorax may significantly affect pulmonary function. Rarely, chronic cardiac enlargement may produce a prominence in the precordial chest wall. Pectus excavatum is the most common pediatric chest wall deformity; most of the others are quite rare.

• Pectus excavatum and pectus carinatum are more common in males.

• Family history is often positive in patients with pectus excavatum.

• Asymmetry in the immediate neonatal period may be the result of intrauterine compression.

• Children who have symptoms of severe exercise intolerance with abnormal chest shape may have underlying pulmonary or cardiac disease.

• Surgery of the chest wall increases the risk of developing deformities.

• Tall stature, arachnodactyly, and joint laxity suggest Marfan syndrome in patients with pectus excavatum or pectus carinatum.

• Syndactyly and brachydactyly are associated with Poland syndrome. Poland syndrome is more common in males. Patients have absence of the pectoralis muscle, more often on the right.

• Short stature and webbed neck with shield chest (broad, with widely spaced nipples) may be seen in Turner or Noonan syndrome. Patients with Noonan syndrome also may have pectus excavatum or pectus carinatum.

• Narrow shoulders with various anomalies of the clavicles and upper extremities occur in Holt–Oram syndrome (which is also associated with cardiac and sternal defects) and cleidocranial dysplasia (in which underdeveloped or absent clavicles, delays in fontanel closure, and tooth eruption also may be seen).

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