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KMID : 1101620180290040185
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Perinatology
2018 Volume.29 No. 4 p.185 ~ p.188
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Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review
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Lee Chan-Young
Lee Na-Mi
Yi Dae-Yong
Yun Sin-Weon
Chae Soo-Ahn
Lim In-Seok
Kim Gwang-Jun
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Abstract
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Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis, and meningomyelocele. We describe a spondylocostal dysplasia form of Jarcho-Levin syndrome that was prenatally diagnosed at 11 weeks of gestation and surviving. Although the patient had sporadic-type Jarcho-Levin syndrome, with normal karyotype and no family history of disease, the assessment of inheritance patterns and genetic counseling for the parents was important to inform them about the potential risks.
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KEYWORD
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Jarcho-Levin syndrome, Prenatal diagnosis, Scoliosis, Ultrasonography
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