Multiple lentigines syndrome (leopard syndrome)

General: Familial occurrence; classic feat 111i87b ures include lentigines (small focal hyperpigmentations of skin), electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness (LEOPARD).

Ocular: Hypertelorism; exophthalmos; epicanthal folds; strabismus; nystagmus; keratoconus.

Clinical: Lowset ears; receding chin; deafness; lentigines; pulmonary stenosis; genital abnormalities; growth retardation; skeletal malformations (bony fusion involving cervical vertebrae, ossicles, carpal and tarsal bones, scoliosis); hyposmia; heart murmur; mental retardation; hypospadias; congenital heart defect; thoracic deformities; respiratory insufficiency.

Gorlin RJ, et al. Multiple lentigines syndrome. Am J Dis Child 1969; 117:652.

Howard RO. Premature cataracts associated with generalized lentigo. Ophthalmology 1980; 87:234-239.

Peter JR, Kemp JS. Leopard syndrome: death because of chronic respiratory insufficiency. Am J Med Genet 1990; 37:340-341.

Swanson SL, et al. Multiple lentigines syndrome: new findings of hypogonadotrophism, hyposmia, and unilateral renal agenesis. J Pediatr 1971; 78:1037.