Services on Demand
Anais Brasileiros de Dermatologia
On-line version ISSN 1806-4841
CERQUEIRA, Roberta Soriano de et al. Do you know this syndrome?. An. Bras. Dermatol. [online]. 2006, vol.81, n.6, pp. 599-601. ISSN 1806-4841. http://dx.doi.org/10.1590/S0365-05962006000600014.
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.
Keywords : Esotropia; Genitalia; Genitalia [abnormalities]; Hearing loss; Lentigo; Leopard syndrome; Pulmonary valve stenosis.