A Japanese case of Poland-Mobius syndrome

We herein report a Japanese case of Poland-Mobius syndrome. The patient was a 19-year-old female. She was the product of a full-term forceps delivery. Birth weight was 2500 g. She had a defect of the right pectoral muscle, and syndactyly of the right hand. When she was 10 days old, facial diplegia, bilateral abducens nerve palsy, and bilateral ptosis were also noted. She was admitted to our hospital at 19 years of age. On physical examination, she had microsyndactyly of the right hand, and her right pectoralis major muscle was absent. Neurological examination revealed bilateral abducens nerve paresis, mild impairment of the upward and adducting movement of both eyes and bilateral facial weakness and atrophy of the left side of her tongue. Her karyotype was normal. Neither R1 nor R2 response was evoked in the blink reflex on either side. Brain MRI disclosed thin facial nerves and atrophy of the pons and medulla. Therefore, she was diagnosed as a case of Poland-Mobius syndrome. In this case, the facial nerves were considered to be hypoplastic.