Perinatology

  • 제29권4호
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  • Pages.185-188
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  • 2018
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  • 2508-4887(pISSN)
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  • 2508-4895(eISSN)
대한주산의학회 (The Korean Society of Perinatology)
권호 표지
DOI QR코드

DOI QR Code

Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review

  • Lee, Chan Young (Department of Pediatrics, Chung-Ang University College of Medicine) ;
  • Lee, Na Mi (Department of Pediatrics, Chung-Ang University College of Medicine) ;
  • Yi, Dae Yong (Department of Pediatrics, Chung-Ang University College of Medicine) ;
  • Yun, Sin Weon (Department of Pediatrics, Chung-Ang University College of Medicine) ;
  • Chae, Soo Ahn (Department of Pediatrics, Chung-Ang University College of Medicine) ;
  • Lim, In Seok (Department of Pediatrics, Chung-Ang University College of Medicine) ;
  • Kim, Gwang Jun (Department of Obstetrics and Gynecology, Chung-Ang University College of Medicine)
  • 투고 : 2018.06.29
  • 심사 : 2018.09.07
  • 발행 : 2018.12.31
⟨ 이전 논문 다음 논문 ⟩

초록

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.

키워드

참고문헌

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