Diagnosis

In the management of a medical disorder the first important step is to establish a diagnosis, putting a name to a series of symptoms which identifies it. Once a diagnosis has been made and perhaps having read the available literature, a doctor is then in a position to give the patient informed guidance. A diagnosis is made on the basis of information gathered from the patient, together with the results of certain tests. Even with these tests, diagnosis can not always be conclusive and sometimes the child’s growth and development has to be monitored for some time before all the symptoms become apparent and can be assessed. All or just some of the following methods may be used.

A DETAILED FAMILY HISTORY WILL BE REQUIRED

Examination

This will include standing height, sitting height, body height and joint examination. In addition there will be a full examination of the heart, chest, abdomen and neurological system. The neurological system exam includes testing the reflexes.

X-rays

To examine present bone structure and later on to diagnose maturity rate and disorder changes.

Blood tests

Blood samples may be taken for analysis to establish hormone levels and to detect certain chemicals associated with disorders.

Urine tests

Some disorders result in a build-up of chemicals in the body due to an enzyme deficiency that blocks their breakdown.

Biopsy

A doctor may wish to take a small sample of skin or even bone marrow to look for characteristic abnormalities on these body tissues.

(Source: Information Guide to Persons of Short Stature, edited by Stephen Pinnell, p. 5)

© 2014 SSPA.