“…PS is considered a sporadic syndrome, although some authors have described well-documented cases with an autosomal dominant inheritance pattern and reduced penetrance or delayed mutation (Cobben et al., 1989; Fraser and Ronen, 1989). It may be associated with proximal radioulnar synostosis, radial aplasia of the hand, Sprengel deformity, cutaneous alterations, micromastia or amastia, pectoral and axillary alopecia, anhidrosis associated with the absence of axillary sweat glands, chest wall deformities, dextrocardia (especially left-sided PS), kidney or other visceral anomalies, and trapezius muscle abnormalities (De Smet, 2013; Yiyit et al., 2014). Isolated pectoral muscle hypoplasia does not confirm PS, as this can also be observed in other syndromes with associated anomalies and different inheritance patterns.…”