Poland Syndrome

Abstract

SESSION TITLE: Fellow Case Report Poster - Genetic and Developmental Disorders SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 25, 2016 at 01:30 PM - 02:30 PM INTRODUCTION: Poland syndrome is a rare congenital disorder, characterized by unilateral absence or hypoplasia of chest wall muscles, costal cartilages and breast tissue and in some cases ipsilateral limb shortening and symbrachydactyly. CASE PRESENTATION: We report the case of a 58 year old Caucasian man who was incidentally detected to have a chest wall deformity on routine chest radiograph and subsequently noted to have hypoplasia of chest wall muscles on Computed Tomography. On physical examination he had flattening and excavation of his left chest wall, marked by the absence of nipple or breast tissue [Figure 1]. His left arm was shorter but had normal digits. Right chest wall and arms were normal. Muscle power was 5/5 on both sides and he had no neurological deficits. He had no family history of congenital disorders. He is a construction worker and has no functional limitation. His chest radiography revealed hyperlucency of left chest wall as compared to the right. Computed tomography images revealed hypoplasia of the pectoralis major and minor muscles and rib hypoplasia on the left side [Figure 2]. Echocardiogram was normal. DISCUSSION: Poland syndrome was first described by Sir Richard Poland in 1841 and typically consists of unilateral absence or hypoplasia of the chest wall muscles, costal cartilages, breast tissue, nipple and symbrachydactyly. Incidence is estimated at 1 in 100,000 live births with a male preponderance. The pathogenesis is unclear but considered to be a developmental vascular defect, occurring at about the 6th week of gestation, due to diminished blood supply to the developing arm and muscle buds. Various reconstructive surgeries can be performed for cosmetic and functional reasons. Our patient did not have any functional limitation and did not require any intervention. CONCLUSIONS: Poland syndrome is a rare congential anomaly involving unilateral thoracic musculoskeletal structures that usually do not result in any functional impairment. However it has rarely been associated with diaphragmatic hernia, dextrocardia and renal anomalies, which need to be screened for. Reference #1: Cingel V, Bohac M, Mestanova V, Zabojnikova L, Varga I. Poland syndrome: from embryological basis to plastic surgery. Surg Radiol Anat. 2013;35(8):639-46. Reference #2: Sharma CM, Kumar S, Meghwani MK, Agrawal RP. Poland syndrome. Indian J Hum Genet. 2014;20(1):82-4. Reference #3: Panda SS, Bajpai M, Singh A, Jana M. Poland syndrome involving the left hemithorax with dextrocardia and herniation of the spleen. BMJ Case Rep. 2014;2014. DISCLOSURE: The following authors have nothing to disclose: Deepak Chandra, Amol Patil, Krishna Siva Sai Kakkera, Deepa Jayakrishnan No Product/Research Disclosure Information