[P2-34] A case of Poland-Mobius syndrome
(Background) Mobius syndrome is classically defined as combined congenital facial and abducens nerve palsy, while Poland syndrome is characterized by absence or hypoplasia of the pectoralis muscles and a variable degree of ipsilateral hand and digit anomalies. Poland-Mobius syndrome is the merger of these two rare diseases, both of which have similar causes. We report a case of Poland-Mobius syndrome and include a review of current literature. (Patient) A male patient aged five years old came to our hospital due to several anomalies, including bilateral abducens nerve palsies, left facial nerve paralysis, absence of the left pectoralis major muscle, left hypoplastic nipple, left-sided hemiatrophy, left hand and foot acromicria, and left symbrachydactyly. Brain MRI indicated facial nerve defect, straightening of the floor of the fourth ventricle, and hypoplasia of the pontine tegmentum. From these findings, we diagnosed him with Poland-Mobius syndrome. He is now participating in speech therapy and is scheduled for cosmetic surgery. (Discussion) Poland-Mobius syndrome is rare, and in most cases, sporadic. The pathogenesis of Poland syndrome and Mobius syndrome has yet to be determined, but both these syndromes have been hypothesized to be caused by embryological disruption of subclavian artery development by ischemic injury and intrauterine toxic exposure. Mobius syndrome is often regarded as a communication disorder because affected patients have difficulty expressing emotion, and require training. Patients with Poland syndrome are considered for surgical treatment for cosmetic and functional purposes. Therefore, although it is a rare disorder, early diagnosis and intervention is important.