The natural history of Möbius syndrome in a 32-year-old man

Abstract

Möbius syndrome (OMIM#157900) is an extremely rare congenital entity involving bilateral or unilateral palsy of the facial nerve, usually with dysfunction of other cranial nerves (second, third, fifth, sixth, ninth, tenth and twelfth). It was estimated that Möbius syndrome occurs in 1 of 50 000 live births. The aetiology and the pathogenesis of the syndrome remain unknown. The majority of published cases were sporadic. We report on the natural history of a 32-year-old man with de novo Möbius syndrome. The diagnosis was established at the age of 9 months due to partial bilateral facial and abducent nerve palsy. Additionally, the patient demonstrated failure to thrive during infancy and childhood, many dysmorphic features, lower limb anomalies, and hypogonadism in adulthood, but his intelligence was in the normal range. The low quality of life of the patient with Möbius syndrome is emphasized.