A rare syndrome disfigured his face at birth

A rare syndrome disfigured a child’s face at birth, and thanks to a treatment we see the beautiful start of a smile that changes anyone’s day.

A rare syndrome disfigured his face at birth. After treatment, we see the beginning of his smile

In the world there are millions of diseases and conditions that are totally unknown to us. And therefore, so are hundreds of procedures that change people’s lives every day.

One such story is that of a child – whose identity is not revealed – who suffered from Crouzon syndrome, a little-known genetic condition characterized by the premature closure of the sutures of the cranial base, as well as those of the orbit and the maxillary complex that give him his characteristic appearance.

The case was treated by Dr. Alexander Stratoudakis, MD, at the Hellenic Craniofacial Center (HCC), located in Athens, Greece, who shared the case on their website.

The initial image of the child is impressive. But even more impressive is the drastic change in his face.

According to the Hellenic Craniofacial Center, because there is almost always a limitation of the capacity of the skull and the brain suffers pressure, they first relieved that pressure with an expansion of the cranial cavity. The surgery consists of fracturing several bones of the face, and then placing a device known as an “osteogenic distractor”, which are pins that direct and stimulate bone growth.

This operation can be performed at an earlier age, if necessary, due to functional problems that require immediate resolution (obstructive apnea, increased intracranial pressure causing decreased vision).

This child specifically suffered from craniofacial stenosis associated with Crouzon syndrome. In addition to the cosmetic improvement, after the procedure, the patient had an improvement in breathing (the vast majority of patients with the syndrome need a breathing apparatus during sleep) and vision, as many have diplopia (double vision).

After the operation, this child looks like this today:

Crouzon syndrome is caused by multiple mutations in the FGFR 2 gene, which can be inherited from parents or be new mutations. It occurs in 1 in 60,000 people.

Although, all these problems seem to be insurmountable and it is quite natural that it is a source of significant anxiety for the parents, however, with regular visits in a well organized Craniofacial Center, their treatment is carried out correctly and with minimum discomfort for the child and his family.