A Case of Saldino-Noonan Type Short Rib-Polydactyly Syndrome

ABSTRACT

Short rib-polydactyly syndrome (SRPS) is a rare type of skeletal dysplasia characterized by short limb dysplasia, thoracic hypoplasia, polydactyly and multiple visceral anomalies. It is transmitted as a autosomal recessive trait. There have been 4 classic types of SRPS, of which Saldino-Noonan type is the most common, and is characterized by very narrow thorax, short limb, postaxial polydactyly, striking metaphyseal dysplasia of tubular bones, pelvic abnormalities, hypoplasia of iliac bones, flat acetabulae, and abnormalities of urogenital, anorectal and cardiovascular system. We report a newborn infant who had typical features of Saldino-Noonan type SRPS, clinically and radiologically and had compatible autopsy findings.