All issues > Volume 43(4); 2000

Case Report

J Korean Pediatr Soc. 2000;43(4):578-582. Published online April 15, 2000.

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

Hye Young HY Han¹, Gwang Hoon GH Lee¹, Eell E Ryoo¹, Kang Ho KH Cho¹, Mi Jin MJ Jung¹, Gil Hyun GH Kim¹, Hak Soo HS Lee¹, Hyuni HI Cho²

¹Department of Pediatrics, Gachon Medical School, Incheon, Korea
²Department of Anatomical Pathology, Gachon Medical School, Incheon, Korea

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.

Keywords :Short rib-polydactyly syndrome, Saldino-Noonan type