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An infant with a short philtrum may have other symptoms and signs that, when taken together, define a specific syndrome or condition. Diagnosis of that condition is based on a family history, medical history, and thorough physical evaluation by an experienced geneticist.
Medical history questions documenting short philtrum in detail may include:
- Did you notice this when the child was born?
- Have any other family members had this facial feature?
- Have any other family members been diagnosed with a disorder associated with short philtrum?
- What other symptoms are also present?
Diagnostic tests:
Laboratory studies such as chromosome studies, enzyme assays, x-rays and metabolic studies on both mother and infant may be ordered to confirm the presence of a suspected disorder.
After seeing your health care provider:
If a diagnosis was made by your health care provider associated with a short philtrum, you may want to note that diagnosis in your personal medical record.
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