LEOPARD syndrome: Death because of chronic respiratory insufficiency

J. R. Peter, J. S. Kemp

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10 Scopus citations


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.

Original languageEnglish
Pages (from-to)340-341
Number of pages2
JournalAmerican journal of medical genetics
Issue number3
StatePublished - 1990


  • cataracts
  • kyphoscoliosis
  • micrognathia
  • pulmonary hypertension
  • ventilatory insufficiency


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