منابع مشابه
Leopard syndrome
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patie...
متن کاملLEOPARD syndrome: Report of a case
LEOPARD syndrome is an autosomal dominant hereditary disease, which is characterized with cutaneous pigmented patches, electrocardiographic changes, ocular hypertelorism, retarded growth, pulmonic stenosis, genital abnormalities and congenital deafness. The gene of this disease have high penetrance but expression is varied and incomplete forms may be seen. We report a 23 year-old woman wi...
متن کاملDo you know this syndrome? Leopard syndrome*
Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism,...
متن کامل[Cardiac abnormalities in LEOPARD syndrome].
LEOPARD syndrome is an autosomal dominant genetic disorder involving a complex of malformations and other features, including lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, growth retardation, and sensorineural deafness. The most common cardiovascular manifestations of this condition are pulmonary valve stenosis, ...
متن کاملDermatologic Manifestations of the LEOPARD Syndrome
The LEOPARD syndrome is an exceptional autosomal dominant genetic disease with a missense mutation of the PTPN11 gene in more than 90% of the cases. The principal clinical manifestations include extensive lentiginosis, heart conduction abnormalities, hypertrophic obstructive cardiomyopathy, ocular hypertelorism, pulmonary stenosis, genital anomalies, mental retardation, growth retardation and d...
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ژورنال
عنوان ژورنال: Dermatology Online Journal
سال: 2015
ISSN: 1087-2108
DOI: 10.5070/d32110028958