Table 2 Recommendations for diagnosis of PS (principal diagnostic criteria)
From: Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)
Grade | Consensus agreement | ||
|---|---|---|---|
R2.4 | The mandatory feature of PS is the agenesis or hypoplasia of the pectoralis major muscle (the sterno-costal head is always affected). In most cases, PS is unilateral. Presumed bilateral PS needs a more extensive differential diagnosis. Additional diagnostic criteria are hypo/aplasia of the omolateral mammary gland and nipples, and malformations of the omolateral upper limb (limited to or more severely affecting the central rays). | Definitely useful/strong literature | 93,8% |
R2.5 | The diagnosis is made through the physical examination of the patient; an ultrasound of the pectoralis muscles is important but not strictly necessary for the diagnosis | Definitely useful/strong literature | 92,9% |
R2.6 | The sterno-costal head of the pectoralis major muscle is involved in most frequently; the other heads of the pectoralis major muscle and the pectoralis minor muscle are involved in different percentages of patients | Definitely useful/strong literature | 93,3% |
R2.7 | The latissimus dorsi muscle may be involved too in a minority of cases | Definitely useful/strong literature | 92,3% |
R2.8 | Many variable phenotypical characteristics can be associated but we cannot diagnose PS in the absence of the basic diagnostic criterion | Definitely useful/strong literature | 92,9% |
R2.9 | The concurrence of rare internal organ malformations, such as kidney agenesis or destrocardia, may ease prenatal detection, but also in these cases, the underlying PS is recognized postnatally | Definitely useful/strong literature | 71,4% |