Larsen증후군 1예
A case of Larsen syndrome
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초록
Larsen증후군은 다관절 탈구와 특징적인 안면을 포함하는 콜라젠 형성및 결체조직 이상의 드문 유전성 질환이다. 다른 특징으로는 구개열, 정신지체, 뇌수종, 심장 기형, 감각신경성/복합성 난청 등을 포함한다. 출생아 100,000명당 1명의 빈도로 발생하고 상염색체 우성과 상염색체 열성으로 유전될 수 있지만 가족력이 없는 산발성의 예도 보고되고 있다. 진단의 확진은 출생후에 가능하다. 저자들은 작은 턱증, 슬반슬, 발목 관절 구축 그리고 곤봉발과 유사한 모양, 계속적인 신전상태의 손가락과발가락의 초음파 소견을 보인 태아가 분만 후 Larsen증후군으로 진단되었기에 간단한 문헌고찰과 함께 보고하는 바이다.
Abstract
Larsen syndrome is a rare congenital skeletal malformation (1 in 100,000 births) caused by a generalized mesenchymal connective tissue disorder. This disorder leads to a broad spectrum of anomalies. Major diagnostic criteria are multiple dislocations of large joints (especially knees), short metacarpals with cylindrical nontapering fingers and craniofacial abnormalities. Clinical variations range from mild clinical expression to lethal forms. Sporadic occurrence as well as autosomal dorminant and recessive inheritance are described.
참고문헌 (20)
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