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LEOPARD syndrome (Pathology Acronym)
Dr Sampurna Roy MD May 2016
LEOPARD syndrome is
a rare multiple congenital disorder, mainly characterized by skin, facial
and cardiac anomalies.
The acronym LEOPARD was coined by Gorlin et al. and is associated with numerous lentigines.
The most common cardiac malformations are ventricular septal hypertrophy and pulmonary (or subpulmonary) stenosis which may be associated with a progressive (obstructive) cardiomyopathy and abnormal ECG findings.
L = Multiple Lentigines
E = ECG Conduction Abnormalities
O = Ocular Hypertelorism
P = Pulmonic Stenosis
A = Abnormal Genitalia
R = Retardation of Growth
D = Deafness
The clinical suspicion of LEOPARD syndrome may be confirmed by molecular screening for PTPN11 mutations.
An early diagnosis of the disease is useful for the care of associated medical problems and for genetic counseling.
|"A leopard does not change his
spots, or change his feeling that spots are rather a credit.
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