All issues > Volume 27(1); 1984

Case Report

J Korean Pediatr Soc. 1984;27(1):98-104. Published online January 31, 1984.

Acromesomelic Dysplasia Syndrome.

Hyung Ro Moon

¹Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea

Abstract

A further case of acromesomelic dysplasia syndrome is reported in a twelve year old Korean boy born on January 15, 1971 at full term. His height was only 99.5 cm. on his visit to the outpatient department. The present case showed disproportionate shortening of the extremities, especially in the forearms, hands, shanks and feet together with most of the reported clinical and radiological features of Maroteaux type acromesomelic dysplasia (dwarfism) which include frontal prominence, low thoracic kyphosis, relatively large great toes, bowed forearms, limited elbow extension, small thorax, high clavicles and corned epiphyses.

Keywords :Disproportionate dwarfism; Skeletal dysplasia; Acromesomelic