Journal of the Korean Society of Neonatology  2010;17(1):141-146

A Newborn with Lethal Metatropic Dysplasia.

Hye Jung CHO 1 ; Seon Tae HWANG ; Sang Seon LEE ; Jee Eun KIM ; Ae Ran JO ; So Yeon SHIM ; In Sang JEON ; Dong Woo SON

Affiliations

+expand

Keywords

Metatropic dysplasia; Metatropic dwarfism syndrome; Small thorax; Thoracic kyphoscoliosis; Metaphyseal flaring; Large hands and feet; Short limb

Country

Republic of Korea

Language

English

Abstract

Metatropic dysplasia is a rare spondylo epi metaphyseal dysplasia characterized by progressive kyphoscoliosis, short limbs with relatively large hands and feet and limited of motion and enlargement of the large joints. It is diagnosed based on the characteristic clinical and radiological features. Even though benign cases of this disease are frequently reported, metatropic dysplasia can often have a fatal outcome. We describe a sporadic case of the well-delineated lethal metatropic dysplasia.