• Perinatology
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• 제29권4호
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• pp.185-188
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• 2018

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.

• Neonatal Medicine
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• 제15권1호
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• pp.84-88
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• 2008

저자들은 짧은 목과 짧은 흉곽, 경추에서 흉추에 걸쳐 척추열, 척추분절, 척추반측이상, 척추부재 등의 척추기형과 짧은 늑골, 늑골 융합과 늑골의 부재 등의 늑골기형과 함께 우측 신장이 좌측 신장에 융합된 신장기형을 동반한 Jarcho-Levin 증후군 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.