Noonan Syndrome Eye Signs: A Case Report

The disease is characterized by skeletal anomalies such as short stature, mane neck, clinodactyly, pectus excavatum and/or carinatum, low and posteriorly rotated ears, triangular face, small maxilla, micrognathia, high palate, dental malocclusion, congenital heart defects, renal malformations, lymphatic system pathologies, puberty delay, hearing loss, moderate mental retardation, and urogenital malformations. More rarely, the disease may be accompanied by psychomotor developmental deficits. Moreover, thrombocytopenia and dissemination of clotting factors (VIII, XI, and XII) are common in these patients, especially in childhood. In a small number of the cases, pigmentation disorders such as nevus, café-au-lait spots, and lentigo occur. It is important to know that eye signs are more frequent in these patients, and usually occur as hypertelorism, downset palpebral fissures, epicentral folds, ptosis, fracture defects, strabismus, amblyopia, nystagmus, coloboma, keratoconus, and cataracts (1-3).