Severe Agnathia–otocephaly complex: Surgical Management & Longitudinal Follow-up of 4 patients from birth through adulthood

Purpose/introduction: Otocephaly-dysgnathia complex (ODC) is characterized by mandibular hypo- or aplasia, ear abnormalities, microstomia, and microglossia.  The spectrum of this rare syndrome extends from patients born without a mandible, agnathia-- to patients with micrognathia.       The literature reports on only seven patients with ODC whom have survived past infancy.    We report our single-institution, long-term follow-up on 3 patients, present our reconstructive experience and suggest a management strategy.

Methods: A retrospective, single institution review of all patients with ODC treated over a 30 year period was reviewed. Two males with a symphyseal mandibular remnant only, i.e. nanognathia and one female with agnathia were included.

Results: All patients were without tongue, but had a normal nasopharynx. Mean age at last visit was 12.1 years (5-16), and mean follow-up was 11.1 years (5-13).  At birth, all three patients underwent tracheostomy and gastrostomy-tube placement.   Commissuroplasties were typically performed before 3 years of age and repeated as necessary to allow for oral hygiene and improved oral access for surgery.  Mandibular reconstruction was performed with rib between ages 3 and 8, after which time, free fibula transfer was utilized. Due to resorption or extrusion, all patients underwent repeat bone grafting.  Tissue expansion of the neck was commonly used to augment deficient soft tissue of the lower face, but was more successful  in the teenage years. A 3DCT of the youngest patient is shown in Figure 1, with his most recent post-operative result in Figure 2.  Although all patients retained tracheostomy and gastrostomy-tube dependent, they were able to communicate, make friends and attend school. An algorithm based on our experience will be presented.

Conclusions: ODC need not be a fatal nor untreatable conditions; a reasonable quality of life can be achieved as we have shown in these three patients.  Although the lower-facial contour may be restored, and stoma created, the inherent lack of musculature make deglutition virtually impossible with current therapies.  Just as transplantation has emerged as a modality for facial restoration following severe trauma, so too may it be an option in the future for congenital deformities.

 

 

 

 

 

 

 

 

 

 

Figure 1: 3D Ct at 9 months of age, prior to any reconstruction. Note the nanognathia- the midline symphyseal remnant

 

 

 

Figure 2:  The same child, at age 5½, after two commisuroplasties and two rib reconstructions