A heart murmur may be revealed by listening to the chest with a stethoscope (auscultation). Characteristic abnormalities are revealed by a physical examination. These include a flattened facial profile, small ears, separation of the abdominal muscles, joint hyperflexibility, awkward gait, extra skin on back of neck at birth, and an abnormal bone in the middle of the 5th finger.
Early and massive vomiting may indicate obstruction of the esophagus (esophageal atresia) or duodenum and less often lower segments of the gastrointestinal tract. This is sometimes discovered by inability at birth to pass a tube from the nose into the stomach or duodenum as well as by special X-rays.
Tests include:
- physical exam (diagnosis often suspected and made by examination)
- chromosome studies (demonstrates three copies of 21st chromosome in 94% of cases. The rest have other chromosome abnormalities)
- X-ray, chest (to determine presence of cardiac abnormalities)
- echocardiogram (to determine nature of cardiac abnormality)
- ECG
- X-ray, gastrointestinal (to determine obstruction if symptoms are suggestive)
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