TY - JOUR
T1 - LEOPARD syndrome
T2 - Death because of chronic respiratory insufficiency
AU - Peter, J. R.
AU - Kemp, J. S.
PY - 1990
Y1 - 1990
N2 - 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.
AB - 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.
KW - cataracts
KW - kyphoscoliosis
KW - micrognathia
KW - pulmonary hypertension
KW - ventilatory insufficiency
UR - http://www.scopus.com/inward/record.url?scp=0025153696&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320370309
DO - 10.1002/ajmg.1320370309
M3 - Article
C2 - 2260561
AN - SCOPUS:0025153696
SN - 0148-7299
VL - 37
SP - 340
EP - 341
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 3
ER -