Rowley-Rosenberg Syndrome
摘要
Growth retardation, pulmonary hypertension, and aminoaciduria, also known as Rowley-Rosenberg syndrome or Busby syndrome, is a rare genetic syndrome that affects the skin and muscle, and in many cases increases the risk of potentially life-threatening heart and lung problems. Affected patients developed the syndrome in childhood. The patients manifest with scanty adipose skin tissue, poor muscular development, recurrent pulmonary infection, atelectasis, pulmonary hypertension right ventricular hypertrophy, and cor pulmonale, leading to growth retardation and short stature with normal intelligence.