ABSTRACT

Poland syndrome is a congenital anomaly characterized by the absence of ipsilateral pectoralis major muscle and deformities of upper extremities and anterior chest wall. Its incidence is one in 30.000 live births. Most of the cases with Poland syndrome are sporadic, however an autosomal dominant inheritance is possible. Hypoplasia or absence of the nipple, congenital diaphragmatic hernia, dextrocardia, microcephaly and psychomotor retardation are less rarely seen. However association of this syndrome with macrocephaly has, to our knowledge, not been reported previously. We herein report a case of Poland syndrome presenting with macrocephaly and review the characteristics of this syndrome.