Eight patients with multiple bilateral thoracic anomalies: a new syndrome or bilateral Poland's syndrome?

Background: Poland's syndrome is a rare congenital anomaly characterized by an absence or hypoplasia of the greater and smaller pectoral muscles, breast or nipple anomalies, hypoplasia of subcutaneous tissue, chest wall deformities, pectoral and axillary alopecia, and hand anomalies. Poland's syndrome is usually unilateral. We present 8 patients with multiple bilateral thoracic anomalies.

Methods: Eight patients were admitted to our clinic with an abnormal thoracic appearance and restriction of shoulder mobilization. Bilateral multiple muscles, including the greater pectoral muscle and some other thoracic muscles, could not be palpated during physical examination. All patients were evaluated, with a preliminary diagnosis of bilateral Poland's syndrome.

Results: All patients exhibited partial or complete absence of bilateral greater pectoral muscles, absence or hypoplasia of bilateral smaller pectoral muscles, bilateral shoulder protrusion to the front, limited abduction of both shoulders, absence or hypoplasia of other bilateral thoracic muscles (serratus anterior, latissimus dorsi, and trapezius muscles), and scapula alata.

Conclusions: All patients with Poland's syndrome have unilateral hypoplasia or absence of the greater pectoral muscle as the main feature. Poland's syndrome is routinely described as a unilateral syndrome. Cases of Poland's syndrome are typically sporadic. Our patients had different additional bilateral anomalies. In particular, the main problems our patients had were the position of the shoulders and limited abduction of both upper extremities. In contrast to patients with Poland's syndrome, half of our cases were familial. We consider our patients important examples in that they either present a new syndrome or show that Poland's syndrome can be bilateral.