A case of short-rib-polydactyly syndrome of the Saldino-Noonan type is presented. The salient features of three other syndromes most closely resembling this disease, namely asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome and Majewski syndrome are briefly reviewed with the aim of helping in their differential diagnosis.

Keywords: chondrodystrophy, dwarfism, polydactyly, Saldino-Noonan syndrome, short-rib polydactyly, thoracic dystrophy