NOONAN SYNDROME – CASE REPORT
| Autor: | Milena Vujanović, Gordana Stanković-Babić, Sonja Cekić |
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| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: | |
| Zdroj: | Acta Medica Medianae, Vol 53, Iss 2, Pp 54-56 (2014) |
| Druh dokumentu: | article |
| ISSN: | 0365-4478 1821-2794 |
| DOI: | 10.5633/amm.2014.0209 |
| Popis: | Noonan Syndrome is a rare, autosomal dominant disorder characterized by short stature, facial abnormalities, congenital heart defects and urogenital malformations. Ocular changes occur in 95% of patients and usually include hypertelorism, ptosis, refractive errors, strabismus, amblyopia, rarely nystagmus, colobomas, cataracts, optic nerve drusen. Case report: We present a case of a boy, 10 months old, referred by the pediatrician because of strabismus. During the general examination of the head and face, we noted that the ears were low-set, and the lower jaw was slightly smaller. Ophthalmological examination revealed hypertelorism, left eye esotropia, hyperopia, and optic disc pit. Other associated malformations were: dilatation of both pyelons, cryptorchidism, pulmonary stenosis. Genetic analysis confirmed the diagnosis of Noonan syndrome. The variety of clinical manifestations of this syndrome indicates that a multidisciplinary approach is necessary for diagnosis, treatment, and follow-up of these patients. |
| Databáze: | Directory of Open Access Journals |
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