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KMID : 0438520100170010141
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Journal of the Korean Society of Neonatology
2010 Volume.17 No. 1 p.141 ~ p.146
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A Newborn with Lethal Metatropic Dysplasia
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Joe Hae-Jung
Hwang Seon-Tae
Lee Sang-Seon
Kim Ji-Eun
Jo Ae-Ran
Shim So-Yeon
Jeon In-Sang
Son Dong-Woo
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Abstract
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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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KEYWORD
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Metatropic dysplasia, Metatropic dwarfism syndrome, Small thorax, Thoracic kyphoscoliosis, Metaphyseal flaring, Large hands and feet, Short limb
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