Peter J R, Kemp J S
St. Louis University School of Medicine, Department of Pediatrics/Adolescent Medicine, Cardinal Glennon Children's Hospital, Missouri 63104.
Am J Med Genet. 1990 Nov;37(3):340-1. doi: 10.1002/ajmg.1320370309.
Most patients with LEOPARD syndrome (L--lentigines, E--electrocardiographic conduction defects, O--ocular hypertelorism, P--pulmonary stenosis, A--abnormalities of genitalia, R--retardation of growth, D--deafness) seem to lead a relatively normal life, cardiomyopathy being the cause of death in a few. We describe a 19-year-old woman with an extreme form of the syndrome requiring correction of her thoracic deformities and cardiac defects, succumbing ultimately to respiratory insufficiency. The respiratory insufficiency was secondary to her deformed thorax, with the congenital heart defect contributing to the development of pulmonary hypertension. The ventilatory status of LEOPARD syndrome patients may require careful assessment.
大多数豹皮综合征（L——雀斑样痣、E——心电图传导缺陷、O——眼距增宽、P——肺动脉狭窄、A——生殖器异常、R——生长发育迟缓、D——耳聋）患者似乎能过上相对正常的生活，少数患者死于心肌病。我们报告一名19岁女性，患有该综合征的极端形式，需要矫正胸廓畸形和心脏缺陷，最终死于呼吸功能不全。呼吸功能不全继发于胸廓畸形，先天性心脏缺陷导致肺动脉高压的发展。豹皮综合征患者的通气状况可能需要仔细评估。
