Year: 2026 | Month: June | Volume: 16 | Issue: 6 | Pages: 47-50
DOI: https://doi.org/10.52403/ijhsr.20260605
Beyond a Cosmetic Deformity: Poland Syndrome Presenting with Significant Restrictive Lung Disease – A Case Report
Mitul Prakash1, Mohnish Darshan1, Amber Kumar1, Bhavna Dhingra1
1Department of Pediatrics, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India.
Corresponding Author: Bhavna Dhingra
ABSTRACT
Poland syndrome is a rare congenital anomaly characterised by unilateral absence or hypoplasia of the pectoralis major muscle with variable involvement of the chest wall and adjacent structures. It is typically considered a cosmetic deformity, and functional impairment is often under-recognised. We report a 17-year-old male who presented with long-standing asymmetry of the right chest wall, noted since early childhood. Clinical examination revealed flattening of the right hemithorax with preserved nipple–areolar complex and absence of skeletal anomalies. Pulmonary function testing demonstrated a severe restrictive ventilatory defect, with reduced forced vital capacity and preserved FEV1/FVC ratio. High-resolution computed tomography confirmed non-visualisation of the right pectoralis major and minor muscles, along with associated parenchymal changes. Cardiac evaluation was unremarkable. The patient was managed conservatively with incentive spirometry and chest physiotherapy and is under regular follow-up.
This case highlights that clinically significant pulmonary involvement, although uncommon, can occur in Poland syndrome even in the absence of major skeletal deformities. It underscores the importance of early functional assessment and longitudinal monitoring to identify subclinical respiratory compromise. Recognition of such presentations is essential to guide timely intervention and optimise long-term outcomes.
Key words: Poland syndrome; Restrictive Lung Disease; Pectoralis Major; Agenesis.