J Korean Soc Neonatol.
2010 May;17(1):141-146.
A Newborn with Lethal Metatropic Dysplasia
- Affiliations
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- 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.
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.
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