A Newborn with Lethal Metatropic Dysplasia.
- Author:
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
Author Information
1. Department of Pediatrics, Graduate School of Medicine, Gachon University of Medicine and Science, Incheon, Korea. sondw@gilhospital.com
- Publication Type:Case Report
- Keywords:
Metatropic dysplasia;
Metatropic dwarfism syndrome;
Small thorax;
Thoracic kyphoscoliosis;
Metaphyseal flaring;
Large hands and feet;
Short limb
- MeSH:
Dwarfism;
Extremities;
Fatal Outcome;
Foot;
Hand;
Humans;
Infant, Newborn;
Joints;
Osteochondrodysplasias
- From:Journal of the Korean Society of Neonatology
2010;17(1):141-146
- CountryRepublic 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.
