Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Abstract

Background: Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.

Main body: The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus.

Conclusion: Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts.

Keywords: Best practice recommendations; Clinical management; Diagnosis; Poland syndrome; Rare diseases.

Fig. 1

Transverse over the sternum. Probe placed transversely on the sternum (s) with the insertion of sterno-costal component of pectoralis major muscle (*) on both side of the manubrium and body of sternum, providing immediate information regarding any asymmetry of this component. In order to check the lower part of sterno-costal component is necessary moving with the probe distally to the sixth costal cartilage (c) and the first fibers of rectus abdominis (arrow)

Fig. 2

Sagittal parasternal with the upper edge of the probe on the clavicle. Probe on the sagittal axis of the clavicle, immediately lateral of sterno-clavicular joint: at the upper edge of probe there is the clavicle (cl) where clavicular component of pectoral major (p1) takes origin; a cleavage plane (arrow head) with the sterno-costal component (p2) is visible. Starting from the midportion of the clavicle and continuing laterally, the subclavius muscle (sb) is identified underneath the bone, parallel to the long axis of clavicule, crossed below by axillary artery (*) and vein (collapsed in the image) and brachial plexus cord

Fig. 3

Transverse over the coracoid immediately inferior to the clavicle and medial to gleno-humeral joint. Probe placed transversely over the coracoid (**), found immediately inferior to the clavicle and medial to gleno-humeral joint; on the medial side of the coracoid is possible to appreciate the pectoralis minor muscle (pm). Superficial to the coracoid is located the anterior head of deltoid (da), to differentiate from clavicular component of pectoralis major (p) identifying the cephalic vein in between them (*): pectoralis major muscle intramuscular tendon (arrow)

Fig. 4

Transverse on the arm in external rotation. Probe placed transversely on the arm in external rotation: pectoralis major tendon (arrows) inserting on the lateral labrum of bicital groove; the tendon is located superficial to long head of the biceps (lb), short head of the biceps (sb) and coracobrachialis muscle (cb). Moving the probe medially keeping the same orientation, the pectoralis minor appears in between pectoralis major and thoracic wall, and two neurovascular bundles for pectoralis muscle are visualized (lateral pedicle white arrow head, medial pedicle black arrow head)