Jeune's syndrome (asphyxiating thoracic dystrophy): congenital and acquired

详细信息    查看全文

• 作者：J. Duncan Phillips ; John A. van Aalst
• 关键词：Asphyxiating thoracic dystrophy ; Jeune's syndrome ; Pectus excavatum ; Pectus carinatum ; Asphyxiating thoracic dysplasia
• 刊名：Seminars in Pediatric Surgery
• 出版年：2008
• 出版时间：August 2008
• 年：2008
• 卷：17
• 期：3
• 页码：167-172
• 全文大小：1872 K

文摘

Familial asphyxiating thoracic dystrophy (ATD), also known as Jeune's syndrome, is a rare autosomal recessive disorder with variable severity and multiple musculo-skeletal manifestations. Respiratory distress may be severe, resulting in death during infancy. Surgical repair techniques have typically involved median sternotomy (with graft interposition), resulting in poor outcomes. Acquired ATD may rarely result from impairment of chest wall growth following “open” (Ravitch-type) repair of pectus excavatum or carinatum deformities. Symptomatic patients may have profound restriction of pulmonary function. Repair techniques typically involve re-do Ravitch-type procedures or median sternotomy with rib graft interposition. Mild to moderate improvements in pulmonary function tests have been documented.