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Case Reports
. 2021 Jan 28;14(1):e238392.
doi: 10.1136/bcr-2020-238392.

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

Nadira Shahrul Baharin  1 , Eman Awadh Hashim  1   2 , Quek Bin Huey  1   3   4 , Suresh Chandran  5   3   4   6
Affiliations
Case Reports

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

Nadira Shahrul Baharin et al. BMJ Case Rep. .

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.

Keywords: genetics; musculoskeletal and joint disorders; neonatal intensive care; radiology (diagnostics); respiratory system.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Chest X-ray shows evidence of right-sided diaphragmatic eventration (long arrow) that was subsequently confirmed on us. Deformed right-sided ribs can be seen (short arrow).
Figure 2
Figure 2
Axial CT image shows the right second rib to be deformed (arrow).
Figure 3
Figure 3
Axial CT image shows the normal left pectoralis major muscle (arrow), but the normal right pectoralis major muscle is not seen.
Figure 4
Figure 4
The chest radiograph shows the ‘winging’ or lateral displacement of the right scapula. In addition, the scapula is in a more superior location compared with the left. These are features consistent with a Sprengel’s deformity of the shoulder. No omohyoid bone is present in this patient.
See this image and copyright information in PMC

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