Down Syndrome

Description
Down syndrome, also known as Trisomy 21 due to the presence of a third twenty-first chromosome, is one of the most common and well known birth anomalies. One in every 650 children born will be effected by this syndrome.

Characteristics
Some of the facial features which identify an individual as having Down syndrome include:

Low set ears
Up slanting palpebral fissures
Low nasal bridge and dorsum
Abnormal and excessive facial fat distribution
Protruding, enlarged tongue

Causes
Down syndrome is caused by an error that occurs during the formation of the twenty-first chromosome. Its occurrence is sporadic and the parents are usually unaffected. The risk for future children conceived by the same couple is minimal. Although patients with Down syndrome have a reported reduced fertility rate, those who are able to reproduce have a 50% chance of having a Down child.

Expectations and Treatment
Both prenatal and postnatal growth deficiencies can exist in the Down patients. They often exhibit a short stocky stature and also have delayed growth of the brain resulting in a reduced mental capacity. The extent to which they are intellectually deficient varies from patient to patient. Although there have been many advances in the medical care of these patients, the life expectancy of a patient with Down syndrome is 35 years of age.

Although the craniofacial manifestations of this syndrome may not be medically threatening, the psychological aspect of these anomalies can be harmful. Due to the similar appearance of those with this syndrome, they tend to resemble each other rather then their respective families. With this in mind, the goal of the reconstruction of these malformations is to increase the resemblance of these patients to their families.

Treatment of the anomalies associated with this syndrome include a surgery to correct the eye slant and to remove the skin folds from the inner corners of the eyes. These patients usually require nasal surgery to augment and increase the projection of their nose. In addition, some of the fat in their cheek can be removed to reduce the fullness of their face. It may also be necessary to reduce the size of their tongue to increase its mobility and improve their speech.

Case Studies

Down Syndrome
Preoperative frontal view of 2-year-old patient with typical Down Syndrome facial features. Postoperative frontal view 12 years after the costochondral graft was inserted into the nasal dorsum. The stigmata of Down syndrome were completely removed. Growth of the nose is evident after correction with a costochondral graft. Preoperative and postoperative lateral views. Note the elongation of the nose due to growth of the costochondral graft inserted at 2 years of age.