| Nager's
syndrome is another autosomal dominant disorder characterized by
patients with faces similar to individuals with Treacher Collins
syndrome. These patients also have "bird-like" features and
their mandibles are typically retrognathic with an obtuse gonial angle
and an enlarged antegonial notch. Their distinction lies in the fact
that they have more severe auricular deformities than patients with
TCFS . They also have characteristic upper and lower extremity defects
in a post-axial distribution. The genetic mutation associated with
this deformity is currently unknown.
The treatment of the mandibular
malformations in these patients varies based on the degree of
underlying pathology. Patients with minimal deformity require either
no treatment or a sliding genioplasty, in order to normalize facial
appearance. The majorities of patients however, have more severe forms
of micrognathia and require some form of bone grafting or orthognathic
surgery to generate an adequate repair. Bone grafting of the mandible
with costochondral rib grafts has traditionally been performed in the
prepubescent years in order to augment mandibular projection. Definite
orthognathic surgery is typically delayed until the postpubescent
growth has been completed in order to decrease the incidence of
skeletal relapse secondary to predictable postsurgical skeletal
change.
Recently, patients with severe
bilateral micrognathias have been treated at our institution by
mandibular distraction osteogenesis. Distraction offers the advantage
over traditional mandibular reconstructive approaches. It allows for
the induction of in situ neo-osteogenesis. This bony regenerate has a
very low relapse rate and the minimal invasiveness of the operation
allows the physician to operate on these children at an earlier age.
This frequently permits decannulation of a tracheostomy when
retrognathia is the cause of the airway obstruction. Moreover, it
limits donor site morbidity that has previously accompanied placement
of autologous bone grafts.
Dr. Stelnicki has also assembled a unique team
of specialists who have developed a unique procedure for the treatment
of very severe micrognathia in patients with TCS. This procedure
involves the microvascular transfer of living tissue to the face in
order to create a normal sized mandible. This technology has
allowed TCS children with a tracheostomy to be decanulated at an
early age; thereby permitting normal speech & eating for the first
time in their lives. Dr. Stelnicki has performed several of
these procedures now, and with great success.
Patients with Treacher Collins Syndrome
and Nager's Syndrome frequently also require lower eyelid and ear
reconstructions. Ear reconstruction can begin at age 7-10 and are
usually completed in 2-3 stages. We recommend the use of autogenous
rib cartilage to carve and craft the new ear. In our hands, this
produces the most , acceptable, long lasting result. However, in rare
cases, we also consider placing an osteointegrated ear prothesis to
create the external ear.
Prior to these reconstructions, all
patients will receive a full evaluation by our team audiologist,
otolaryngologist, and speech therapist. A full examination of the
middle and inner ear structures will be performed in order to develop
a plan which will optimize future speech development. In many cases, a
bone conducting hearing aide can be created which will solve the
majority of the hearing problems. In those which it cannot, further
treatment alternatives will be discussed and customized to meet each
individuals needs.
Lower eyelid reconstruction can begin
as early as age six. Simple procedures such as medial or lateral
canthopexies can be used to correct abnormal lid position in many
cases. However, in patients with severe underlying cheekbone
deficiencies, bone grafting to the cheek is required to give the lid a
good foundation on which to rest, prior to moving any soft tissue.
Without this support, the lids themselves would sink back down to
their presurgical position. Lastly, when virtually no lower lid is
present, a vascularized transfer of upper lid skin and muscle to the
lower lid is indicated.
Children with Nager's syndrome usually
have a variety of arm and hand anomalies which accompany their facial
features. A skilled hand surgeon is required in order to properly
address these problems at an early age. Our team has certified hand
specialist trained in the treatment of these problems. Under there
direction, surgery and physical therapy can be inititated which will
significantly improve both the form and function of the effected
hands. This will allow each patient to maximize the use of each
extremity. |
