The Leopard (multiple lentigines) syndrome revisited.
The Leopard syndrome, an acronym, consists of the following features: L-lentigines (multiple), E-electrocardiographic abnormalities, O-ocular hypertelorism, P-pulmonary stenosis, A-abnormalities of genitalia, R-retardation of growth and D-deafness (sensorineural). In addition to the lentigines a few large dark café-noir spots may be scattered over the trunk. Electrocardiographic abnormalities include the S1, S2, S3 pattern and frequently there is pulmonary valvular dysplasia characterized by a pulmonary systolic ejection murmur but no ejection click. Some patients have had subaortic or subpulmonic defects. Others have had atrial septal defect. Hypospadias, cryptorchidism or absence of one ovary has been found. The syndrome is inherited as an autosomal dominant trait.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000175:diagnosis; D003937:Diagnosis, Differential; D004562:Electrocardiography; D005260:Female; D005799:Genes, Dominant; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis; D007223:Infant; D007911:Lentigo / Q000175:diagnosis; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis; D013577:Syndrome; D014424:Turner Syndrome / Q000175:diagnosis