Table 5 Recommendations for differential diagnoses

R5.24

In unilateral PS, differential diagnosis includes: (i) congenital or acquired thoracic soft-tissue anomalies (including isolated unilateral mammary gland/areola/nipple hypo/aplasia, localized lipoatrophy, morphea, Parry-Romberg syndrome, Becker nevus syndrome, surgery, traumas); (ii) asymmetry of the thoracic bony structures, due to thoracic scoliosis and/or bony anomalies; (iii) unilateral acquired or congenital defects of the diaphragm.

Possibly useful/modest literature

R5.25

In bilateral PS, differential diagnosis should also consider skeletal dysplasias affecting the rib cages (“thoracic dysplasia”).

Possibly useful/modest literature

R5.26

In PS with upper limb anomalies, differential diagnosis should consider ectrodactyly, and, in a minor extent, transverse upper limb defects.

Possibly useful/modest literature

R5.27

In complex phenotypes, it should be considered that PS commonly present with Sprengel deformity and less frequently with Moebius sequence (Poland-Moebius syndrome). Single patients combining PS with Adams-Oliver syndrome, Klippel-Feil sequence, facio-auriculo-vertebral dysplasia and frontonasal dysplasia have been also described. Finally, PS can be also part of the Carey-Fineman-Ziter, a congenital myopathy due to recessive variants in MYMK.

Definitely useful/strong literature