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

Objective: The objective of this study was to demonstrate that the branchio oculo-facial (BOF) syndrome is a cervicocephalic neural crest maldevelopmen t. Results: Using an embryologic study, we linked the clinical features and th e level of the neural crest deficiency. We report here two cases of BOF syn drome with a particular branchial cleft presenting as bilateral supernumera ry thymus glands on the surface of the skin; one of the cases was associate d with tetralogy of Fallot. One patient underwent lip reconstruction at 4 m onths, combined with excision of bilateral auricular pits and superior labi al 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 per formed, 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 di fferent levels, with a tiny mesencephalo-prosencephalic lesion and a severe rhombencephalic lesion that includes seven consecutive hindbrain segments, from rhombomere 2 to rhombomere 8.