Late Presentation of Poland Syndrome: A Case Report of a 45-year-old Male with Unilateral Chest Wall Anomalies

Abstract

ABSTRACT Poland syndrome (PS) is a rare congenital disorder characterized by unilateral chest wall anomalies, including the absence or underdevelopment of the pectoralis major muscle. Typically diagnosed in childhood because of visible physical deformities, cases presenting in adulthood are rare and present unique diagnostic challenges. We report the case of a 45-year-old male with longstanding but progressively concerning asymmetry of the chest wall. The patient, who had noticed mild differences since childhood, sought medical evaluation due to increased discomfort. Physical examination revealed the absence of the sternal head of the right pectoralis major muscle. Imaging studies, including chest X-ray and computed tomography, confirmed the diagnosis of PS. This case highlights the variability in the presentation of PS and the potential for delayed diagnosis in adulthood. The rarity of late presentations underscores the need for clinicians to consider PS in the differential diagnosis of unilateral chest wall anomalies, even in adult patients. Management strategies are discussed, emphasizing the importance of a multidisciplinary approach, including surgical intervention and physiotherapy tailored to the patient’s specific functional and esthetic needs. PS can present later in life, and increased awareness among health-care providers is essential for timely diagnosis and management. Addressing functional and cosmetic concerns through a personalized treatment plan can significantly enhance patient outcomes and quality of life.