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DOI: 10.1590/S0365-05962006000600014

Keywords: esotropia, genitalia, genitalia [abnormalities], hearing loss, lentigo, leopard syndrome, pulmonary valve stenosis.

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Abstract:

leopard syndrome is a dominant autosomal anomaly, with high penetrance and markedly variable expression. the acronym leopard was coined in 1969 as a mnemonic rule, highlighting the major features of this syndrome: lentigines, ecg conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. we report the case of a 15-year-old girl with characteristics of leopard syndrome and further discuss the main clinical and genetical features of the disorder.

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