Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

نویسندگان

  • B D Coppin
  • I K Temple
چکیده

The multiple lentigines syndrome is an autosomal dominant condition which has many similarities to Noonan syndrome, except in the most striking feature from which its name is derived. The less neutral but very apt mnemonic, LEOPARD syndrome, was first used by Gorlin et al to whom the major debt in the definition of this syndrome lies, that is, Lentigines, ECG abnormalities, Ocular hypertelorism/Obstructive cardiomyopathy, Pulmonary valve stenosis, Abnormalities of genitalia in males, Retardation of growth, and Deafness. Not previously included in the mnemonic is cardiomyopathy which is an important feature because it is associated with significant mortality.

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ONLINE MUTATION REPORT Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

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Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

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LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), oc...

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عنوان ژورنال:
  • Journal of medical genetics

دوره 34 7  شماره 

صفحات  -

تاریخ انتشار 1997