Leopard syndrome is a genetic condition caused by mutations in the PTPN11 gene. It is similar to Noonan syndrome and is inherited in an autosomal dominant fashion. It can occur sporadically, or it may be a familial disorder characterized by the first letters of the acronym LEOPARD, which stands for: multiple lentigines (L), cafe au lait spots (E), electrocardiographic conduction abnormalities (P), ocular hypertelorism (O), pulmonic stenosis (P), abnormal genitalia (A) and growth retardation and deafness (R).
We present a series of 30 patients with LEOPARD syndrome: 20 sporadic cases fulfilling Voron’s criteria and 10 familial cases from four kindreds. Bidirectional sequencing of PTPN11, RAF1 and BRAF identified recurrent mutations in this group of patients.
The characteristic cutaneous abnormalities of LEOPARD syndrome are multiple tan or brown spots, which form at birth and increase in number throughout childhood. They can also be seen on the torso, limbs and face (lentigosis). The skeletal abnormalities include elongated facies with pectus carinatum or excavatum, thoracic kyphosis, a prognathism of the scapulae and winged scapulae, and a mildly scoliotic progression.
Cardiac abnormalities are present in about 85% of patients with LEOPARD syndrome, usually in the form of hypertrophic cardiomyopathy with variable cardiac valve morphology and conduction defects. Pulmonary stenosis occurs in about 25% of cases. Other phenotypes include endocrine abnormalities (such as cryptorchidism and hypospadias in male patients) and genitourinary abnormalities (such as undescended testes and agenesis of the kidneys and ureters in both sexes). Mild intellectual disability and speech difficulties, as well as deafness due to neural deafness, are common.
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