Kevin S. Smith, DDS
Case 1
The patient is a 3-year-old male with a congenital deformity diagnosed as oro-facial-digital syndrome Type VI. All of the classic manifestations were present except mental retardation. He has had significant airway problems due to an extremely under developed mandible, as well as hyper-reactive airway disease, and has recently been decanulated. He has had chronic ear infections with moderate hearing loss. He was originally seen for evaluation of mandibular distraction osteogenesis.
Upon examination, it was noted that he had the classic face of oro-facial-digital syndrome, including a severe hypoplastic mandible. Otherwise, he was normocephalic, atraumatic, and other facial parameters were within normal limits. Examination of his temporomandibular joints revealed good range of motion, no joint sounds, dislocations, or pain. Intraorally, he had poor oral hygiene, primary dentition, and a high arched palate with clefting of the soft palate. His lower incisors were lingually inclined and there was approximately 2.5 cm of discrepancy between his upper and lower incisors.
FIG. 6.1.4.1., 6.1.4.2. Initial frontal (left) and lateral (right) photographs of the infant at 18 months of age.