All issues > Volume 38(1); 1995

Case Report

J Korean Pediatr Soc. 1995;38(1):133-137. Published online January 15, 1995.

A Case of Acrodysostosis

Suk Hyun SH Lee¹, Chang Won CW Oh¹, Kyoung Sim KS Kim¹, Ki Bok KB Kim¹

¹Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea

Abstract

Acrodysostosis is a rare multiple congenital malformation syndrome with peripheral dysostosis, nasal hypoplasia, mental retardation and growth failure. In 1968, Maroteaux and Malamut first described this disorder in three patients, and thus far now over 30 published cases have been reported worldwide. Radiographic changes include severe shortening of metacarpals, metatarsals, and phalages, cone-shaped epiphyses of the hands and feet, premature fusion of the epiphyses, and advanced bone age. Most patients do relatively well except for the problems of mental deficiency and arthritic complaints. Progressive restriction of movement of the hands, elbows, and spine may occur. Recently, we experienced a case of acrodysostosis in and 11-year-old boy who presented with short stature, short hands and feet, nasal hypoplasia, mental retardation, and typical radiographic findings including severe shortening of metacarpals, metatarsals and phalanges, cone-shaped epiphyses of the hands and feet.

Keywords :Acrodysostosis, Peripheral dysostosis, Nasal hypoplasia, Mental retardation