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Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia

Journal of Genetic Medicine 2020년 17권 2호 p.108 ~ 111
강미현, Lee Jianne, 이용욱, 신지혜, 임한혁, 김유미, 장미영,
소속 상세정보
강미현 ( Gang Mi-Hyeon ) - Chungnam National University Hospital Department of Pediatrics
 ( Lee Jianne ) - Chungnam National University Hospital Department of Pediatrics
이용욱 ( Lee Yong-Wook ) - Chungnam National University Hospital Department of Pediatrics
신지혜 ( Shin Ji-Hye ) - Chungnam National University Hospital Department of Pediatrics
임한혁 ( Lim Han-Hyuk ) - Chungnam National University Hospital Department of Pediatrics
김유미 ( Kim Yoo-Mi ) - Chungnam National University Sejong Hospital Department of Pediatrics
장미영 ( Chang Mea-Young ) - Chungnam National University Hospital Department of Pediatrics

Abstract


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.

키워드

SHOX gene; Leri-weill dyschondrosteosis; Micrognathia; Newborn infant

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