Unilateral Möbius syndrome: two cases and a review of the literature.

IMPORTANCE

The Möbius sequence is a rare condition defined by the combination of congenital non-progressive facial and abducens nerve palsies. The etiology of the sequence is still unknown, but likely encompasses a group of heterogeneous disorders involving genetic maldevelopment of the brainstem, a fetal vascular insult and/or teratogen exposure. The clinical phenotype reported has expanded over the years, and may be associated with more extensive cranial nerve and oropharyngeal involvement, as well as limb defects.

OBSERVATIONS: We describe two cases of children presenting with unilateral Möbius syndrome associated with ipsilateral unilateral palatal weakness. Investigations failed to identified a clear underlying etiology, but both cases shared phenotypic features of other more common cranial facial disorders such as craniofacial microsomia and the velocardiofacial syndrome.

CONCLUSION AND RELEVANCE: These two cases highlight the clinical heterogeneity of the Möbius sequence. Although asymmetries are not uncommon, cases with strictly unilateral features are extremely rare, and as such these may represent a distinct subgroup that may pertain to a specific etiology. Although in many cases, evidence of an intrauterine vascular insult may be identified, a contributing genetic etiology should be considered, even in cases with strictly unilateral features. As such genes expressed in the developing rhombencephalon and its vasculature represent good candidates for future investigation.