LEOPARD syndrome


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LEOPARD syn·drome

[MIM*151100]
syndrome consisting of lentigines (multiple), electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). An autosomal dominant hereditary disorder.

LEOPARD syndrome

a hereditary syndrome transmitted as an autosomal-dominant trait, consisting of multiple lentigines, asymptomatic cardiac defects, and typical coarse facies. It may also be associated with pulmonary stenosis, sensorineural hearing loss, skeletal changes, ocular hypertelorism, and abnormalities of the genitalia. Also called multiple lentigines syndrome.
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LEOPARD syndrome
An autosomal dominant [MIM 151100] condition with thousands of 1–5-mm darkly pigmented macules on the skin

leopard syndrome

Multiple lentigines syndrome An AD condition with thousands of 1-5 mm darkly pigmented macules on the skin, not mucosae Clinical characterized by the acronym LEOPARD–Lentigines, EKG disturbances, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia–gonadal or ovarian hypoplasia, Retarded growth, neural Deafness

LEOPARD syn·drome

(lep'ărd sin'drōm)
A hereditary syndrome consisting of lentigines (multiple), electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural).

LEOPARD syn·drome

(lep'ărd sin'drōm) [MIM*151100]
Syndrome consisting of lentigines (multiple), electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural).
References in periodicals archive ?
They focused on two genetic disorders - Noonan Syndrome, which occurs in 1 in 1,000-2,500 live births and causes short stature, facial, blood and cardiovascular abnormalities and the much less common LEOPARD Syndrome, which features short stature, as well as skin, facial, skeletal and cardiovascular abnormalities.
The UHN study team investigated Noonan Syndrome while the Boston team investigated LEOPARD Syndrome.
The Boston group found that LEOPARD Syndrome results from excessive activity of a different enzyme downstream of RAS, called mTOR.
Gain-of-function raf1 mutations cause Noonan and Leopard syndromes with hypertrophic cardiomyopathy.