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Journal of the Korean Society of Neonatology 2010;17(1):141-146.
Published online May 1, 2010.
A Newborn with Lethal Metatropic Dysplasia.
Hye Jung Cho, Seon Tae Hwang, Sang Seon Lee, Jee Eun Kim, Ae Ran Jo, So Yeon Shim, In Sang Jeon, Dong Woo Son
1Department of Pediatrics, Graduate School of Medicine, Gachon University of Medicine and Science, Incheon, Korea. sondw@gilhospital.com
2Department of Radiology, Graduate School of Medicine, Gachon University of Medicine and Science, Incheon, Korea.
3NICU of Gil Hospital, Graduate School of Medicine, Gachon University of Medicine and Science, Incheon, Korea.
치사성 영양위축성 형성이상 1례
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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.
Key Words: Metatropic dysplasia, Metatropic dwarfism syndrome, Small thorax, Thoracic kyphoscoliosis, Metaphyseal flaring, Large hands and feet, Short limb


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