ABSTRACT
El síndrome de Weill-Marchesani es un desorden genético poco frecuente del tejido conectivo con afectación ocular. Desde su descripción por Weill y Marchesani en 1932 y 1939, se han descrito patrones de herencia autosómica dominante y recesiva. En general estos pacientes se caracterizan por baja talla, braquidactilia con rigidez articular, microsferofaquia, miopía lenticular progresiva, luxación cristaliniana, y glaucoma secundario. Se presentan las características oftalmológicas y clínicas de una paciente a quien se le diagnosticó este síndrome genético. Procedía de una familia de 4 miembros donde uno de ellos presentaba similares características (padre), no se detectaron malformaciones cardiovasculares asociadas pero se recogen antecedentes de autoagresión. El desempeño del oftalmólogo en su diagnóstico precoz y manejo, es de vital importancia, de esta forma se podría lograr una rehabilitación visual y la consecuente incorporación a una vida socialmente útil.
Weil Marchesani syndrome is a rare genetic disorder of the connective tissue with ocular effect. Since the description of this disease by Weill and Marchesani in 1932 and 1939 respectively, patterns of autosomal dominant and recessive inheritance have been outlined. In general, these patients are characterized by small size, brachydactilia, joint rigidity, microspherophakia, progressive lenticular myopia, crystalline luxation and secondary glaucoma. This paper presented the ophthalmologic and clinical characteristics of a female patient who was diagnosed with this genetic syndrome. She came from a four-member family in which one of them presented with similar characteristics (father); there were not associated cardiovascular malformations, but self-attack history was included. The ophthalmologist's performance in the early diagnosis and management of the disease is of vital importance, because in this way, visual rehabilitation could be materialized, with subsequent incorporation to socially useful life.
ABSTRACT
Se presentan las características oftalmológicas y clínicas de dos pacientes hermanos (hembra y varón) con diagnóstico del síndrome de Noonan. Este es un trastorno genético que produce desarrollo anormal de múltiples partes del cuerpo. Se caracteriza por una serie de signos y particularidades físicas que pueden variar ampliamente en rango y severidad según los casos. Generalmente se transmite como un rasgo genético autosómico dominante. Los casos que presentamos se caracterizan por: estenosis valvular pulmonar, hipertelorismo, retardo mental moderado, aspecto típico de la cara con filtrum (surco vertical en el centro del labio superior), párpados gruesos, epicanto, exoftalmos y ptosis palpebral.
The ophthalmological and clinical characteristics of two sibling patients (male and female) diagnosed with Noonan´s syndrome were presented in this paper. This is a genetic disorder that causes abnormal development of many parts of the body. It is characterized by a series of signs and physical peculiarities that may widely vary in range and severity from one case to another. Generally, it is transmitted as a dominant autosomal genetic trait. The two cases had the following features: pulmonary valve stenosis, hypertelorism, moderate mental retardation, typical aspect of the individual's face with filtrum (vertical sulcus located in the center of the upper lip), thick eyelids, epicanthus, exophthalmos and palpebral ptosis.