Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus

Abstract

Objective: The objective of this study was to demonstrate that the branchiooculo-facial (BOF) syndrome is a cervicocephalic neural crest maldevelopment.

Results: Using an embryologic study, we linked the clinical features and the level of the neural crest deficiency. We report here two cases of BOF syndrome with a particular branchial cleft presenting as bilateral supernumerary thymus glands on the surface of the skin; one of the cases was associated with tetralogy of Fallot. One patient underwent lip reconstruction at 4 months, combined with excision of bilateral auricular pits and superior labial fistula. The other patient had a surgical correction of the tetralogy of Fallot, and at 2 months, the two stages of the lip reconstruction were performed, combined with bilateral auricular pit excision. Both patients have shown normal developmental patterns to date.

Conclusion: The BOF syndrome must be considered as a neurocristopathy at different levels, with a tiny mesencephalo-prosencephalic lesion and a severe rhombencephalic lesion that includes seven consecutive hindbrain segments, from rhombomere 2 to rhombomere 8.