Hand and upper limb anomalies in Poland syndrome: a new proposal of classification

Abstract

Background: The Poland anomaly (PA) comprises unilateral absence or hypoplasia of the pectoralis major muscle and a variable degree of ipsilateral hand and upper limb anomalies. Various hand and upper limb anomalies classifications in PA have been previously published. In this work, a new classification of hand and upper limb anomalies in PA is proposed, on the basis of the clinical and instrumental evaluation of 175 patients.

Methods: The patients have been followed by a multidisciplinary approach, consisting in orthopaedic, surgical, and genetic evaluation and chest, upper limb, and ultrasound examination of major and minor pectoralis muscles, heart, and kidney.

Results: Hand and upper limb anomalies were classified in 8 groups on the basis of the clinical degree of severity and on the basis of the presence of coexisting associated anomalies. Data regarding the sex and laterality, previously reported in the medical literature, were confirmed by our analysis. Etiopathogenetic mechanisms leading to the anomaly are discussed.

Conclusions: The proposed classification is derived from the observation of the widest group of patients described in the medical literature. Our proposal could help in the management of patients affected by Poland syndrome and in understanding etiological and pathologic aspects of the disease.

Level of evidence: IV.