A new syndrome of jaw fusion, microcephaly and colobomata?
We report a first child born to healthy unrelated parents who was noted at birth to have fused alveolar margins, microstomia and bilateral iridal colobomata. Further ophthalmological assessement revealed bilateral chorioretinal colobomata. CT scans showed maxillary-mandibular fusion with hypoplasia of the maxilla and associated mid-facial bones and gross hypoplasia of the mandible. Tracheostomy and oroplasty were performed on day 2 of life. Microcephaly developed during the first year of life, and development was mildly delayed.
We review the literature and highlight the similarities and differences between this case and cases of congenital fusion of the jaw reported previously. The range of features seen in this patient may represent a new syndrome.