Reinforcing the vascular disruption theory of the genesis of Poland’s syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects

Abstract

A preterm female infant was admitted at birth with respiratory distress. On examination, she had an asymmetric right chest wall and ipsilateral small hand. Air entry was reduced over the right chest. A clinical diagnosis of Poland’s syndrome was made based on the hypoplasia of the right pectoral muscles, absent nipple, deformed ribs and symbrachydactyly of the ipsilateral hand. Chest X-ray suggested and ultrasound confirmed eventration of the right hemidiaphragm. ‘Subclavian artery supply disruption sequence’ (SASDS) theory by Bavnick and Weaver remains the most accepted pathogenic mechanism in Poland’s syndrome. This case reinforces SASDS theory associated with the genesis of Poland’s syndrome that relates to the pathogenicity of vascular disruption of subclavian artery, characteristics of which are unilateral pectoral defects, symbrachydactyly and eventration of the diaphragm. At 2 months, she underwent diaphragm plication. She is under review by our multidisciplinary surgical team for reconstruction of the chest deformity.

Poland Syndrome in a Pregnancy From an Assisted Reproductive Technology (ART) Cycle With In Vitro Maturation (IVM) and Rescue Intracytoplasmic Sperm Injection (ICSI)

“…The exact mechanism that leads to this syndrome is unknown. It is assumed that the spectrum of aplasia of pectoralis muscles, the athelia, and aplasia of costal ribs are consequences of interruption of the blood supply of the subscapular artery and its branches during the 6th week of development [ 4 , 9 - 10 ]. It is known that the subscapular artery or the axillary artery gives branches to key arteries that supply the thoracic wall like the medial thoracic branches, intercostal arteries, and thoracic artery.…”

“…In the literature, there are rare instances where one member of a family is identified with this condition, with no cases in the immediate or extended family. As a consequence, it is suggested that an abnormality in the vasculature formation may be the main cause of this sequence [ 4 , 9 - 10 ]. Although it is not easy to detect Poland Syndrome prenatally by ultrasound monitoring, some of its most common anatomical abnormalities (widening of coronal sutures, absence of the ossification of cranial and pubic bones, absence/hypoplasia of nasal bone, and hypoplasia of the thoracic cage) found in affected foetuses may be detected prenatally by ultrasound scan [ 11 ].…”

Management of Axillary Contracture in Poland Syndrome: Differentiating Fibrous Band and Skin for Optimal Release

“…Thoracic anomalies in PS may involve the unilateral absence or fusion of ribs, which is often associated with scoliosis or chest wall asymmetry [31,32]. Other associated anomalies reported in some PS cases include lung herniation, dextrocardia, eventration of the diaphragm, vertebral anomalies, and urogenital abnormalities [33][34][35]. Notably, studies have also reported cutaneous webbing in areas such as the pectoral and axillary regions [31,32].…”

Is there a genomic link and common pathogenesis (postzygotic mutations in beta-actin) for Poland syndrome and Becker nevus syndrome?

“…The pathogenesis of Becker nevus syndrome has been demonstrated by Cai et al: postzygotic mutations of the ACTB gene that codes for beta-actin (6). However, a definitive pathogenesis for Poland syndrome remains to be established (1,3). In addition to the other potential 6), I respectfully propose another etiology-that Poland syndrome may also result from postzygotic mutations in beta-actin (7).…”

“…The researchers emphasize that several hypotheses have been suggested regarding the pathogenesis of Poland syndrome (1). The vascular disruption theory (resulting from a subclavian artery supply disruption sequence) is the favored mechanism of pathogenesis (2,3). However, a Poland syndrome patient with no arterial alteration has been described (4); therefore, at least in some patients with Poland syndrome, the vascular disruption theory may not be a uniform etiology for the development of this condition.…”