All issues > Volume 30(12); 1987

Original Article

J Korean Pediatr Soc. 1987;30(12):1439-1445. Published online December 31, 1987.

A Case of Short Rib-Polydactyly Syndrome, Type 3.

Yong Woo Park¹, Jun Ho Kim¹, Yo Han Kim¹, Eun Ryong Kim¹, Soon Jai Lee¹, Young Jin Kim²

¹Department of Pediatrics, Sung Ae Hospital, Seoul, Korea
²Department of pathology, Sung Ae Hospital, Seoul, Korea

Abstract

A case of the Naumoff type (type 3) of short rib-polydactyly syndrome is reported. The skeletal changes included bulging forehead, flat occiput, short cranial base, extremely short horizontal ribs, abnormal vertebrae, and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondrial ossification. Extraskeletal manifestation were cleft palate, pulmonary hypoplasia, hydropelvis and hydroureter with narrowing of ureterovesical junction. Differentiation from other type of short rib-polydactyly syndrome is discussed.

Keywords :Short Rib-Polydactyly syndrome; Type 3.