Poland syndrome: rare congenital anomaly, clinical case report

Abstract

Introduction: the Poland syndrome, a thoracic malformation secondary to agenesis or hypoplasia of the pectoralis major muscle, might be linked to other musculoskeletal, cutaneous, urogenital or cardiac disorders, with an autosomal dominant inheritance (OMIM 173800). Its incidence varies from 1 in 30,000 to 100,000 live births, predominantly in men and right-sided involvement, with an unknown pathogenesis.
Case: we describe the case of a newborn who presented thoracic asymmetry, lowered nipple and loss of continuity of costal arches, with suspected respiratory condition, but did not show signs of respiratory difficulty, other malformations were ruled out and adequate lung integrity and functionality were confirmed.
Conclusions: Poland syndrome is a rare condition worldwide, with different malformations in the thorax or extremities, including other organs such as the heart, urinary tract or biliary tract. The diagnosis is clinical, knowing the main clinical characteristics that accompany the agenesis or hypoplasia of the pectoralis major muscle as a determinant for the diagnosis, with or without involvement of the extremities or thorax, facilitates the diagnosis.