| 释义 |
multiple lentigines syndrome LEOPARD syn·drome [MIM*151100] syndrome consisting of lentigines (multiple), electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). An autosomal dominant hereditary disorder. Synonym(s): multiple lentigines syndromeAn autosomal dominant [MIM 151100] condition with thousands of 1–5-mm darkly pigmented macules on the skin
LEOPARDsyndrome An autosomal dominant condition (OMIM:151100) with variable expression, characterised by thousands of 1–5-mm darkly pigmented macules on the skin, often of the trunk and neck, but not on mucosae. The acronym LEOPARD comes from its clinical symptoms:
▪ Lentigines;
▪ EKG disturbances;
▪ Ocular hypertelorism;
▪ Pulmonary stenosis;
▪ Abnormalities of genitalia (gonadal or ovarian hypogonadism, cryptorchidism, delayed puberty);
▪ Retarded growth;
▪ Deafness (sensorineural, i.e., nerve deafness).multiple lentigines syndrome LEOPARD syndrome Dermatology An AD condition with variable expression, characterized by thousands of 1-5 mm darkly pigmented macules on the skin often of the trunk and neck, but not on mucosae Clinical Sx = mnemonic acronym LEOPARD–Lentigines, EKG disturbances, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia–gonadal or ovarian hypogonadism, cryptorchidism, delayed puberty, retarded growth, nerve deafness, prominent ears. See Lentigo. |