Journal of Genetic Medicine

  • 제17권2호
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  • Pages.108-111
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  • 2020
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia

  • Gang, Mi Hyeon (Department of Pediatrics, Chungnam National University Hospital) ;
  • Lee, Jianne (Department of Pediatrics, Chungnam National University Hospital) ;
  • Lee, Yong Wook (Department of Pediatrics, Chungnam National University Hospital) ;
  • Shin, Ji Hye (Department of Pediatrics, Chungnam National University Hospital) ;
  • Lim, Han Hyuk (Department of Pediatrics, Chungnam National University Hospital) ;
  • Kim, Yoo-Mi (Department of Pediatrics, Chungnam National University Sejong Hospital) ;
  • Chang, Mea-young (Department of Pediatrics, Chungnam National University Hospital)
  • 투고 : 2020.11.13
  • 심사 : 2020.11.23
  • 발행 : 2020.12.31
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초록

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting with idiopathic short stature, disproportionate short stature, or Leri-Weill dyschondrosteosis (LWD) to recessive form of extreme dwarfism and limb deformity in Langer mesomelic dysplasia. LWD is usually diagnosed upon suspicion based on short stature and skeletal abnormalities, and it is rarely accompanied with respiratory failure in the neonatal period. Here, we report the case of a newborn infant with LWD presenting with severe micrognathia that caused respiratory distress, which was diagnosed using microarray testing. Even when the manifestation of Madelung deformity is not yet apparent, LWD should be considered as one of underlying diseases related to congenital micrognathia.

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참고문헌

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