Approach

The diagnosis of NS is typically made clinically. NS is a clinically heterogeneous disorder. A thorough history of the pregnancy, family, and individual, followed by a meticulous physical examination, with particular attention to the features of the head and face, neck, and chest, are usually diagnostic. If NS is suspected, the patient should be investigated for coagulation and cardiac abnormalities, which are common. Genetic testing may be necessary when the diagnosis is equivocal, or for family reasons (e.g., parental diagnosis, determination of the risk for recurrence, or reproductive planning).

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