[Weill-Marchesani's syndrome: familial involvement]. / Síndrome de Weill-Marchesani: afectación familiar.

CASE REPORT: We report the case of a child short in stature with brachydactyly and brachymorphy who was referred to our office complaining of poor vision. This was a case of Weill-Marchesani's syndrome described in a family, in which four of the eight children were affected by spherophakia, brachymorphy and brachydactyly. DISCUSSION: There are few familial cases of Weill-Marchesani's syndrome reported in the literature. Both autosomal dominant and recessive inheritances have been described. The opththalmologist plays a crucial role in its diagnosis and management, since the ocular involvement is the most severe one.

Síndrome de Weill-Marchesani: afectación familiar / Weill-Marchesani's syndrome: familial involvement

Caso clínico: Presentamos el caso clínico de unniño con talla baja, braquidactilia y braquimorfiaremitido a la consulta por baja visión. Se trata de uncaso de síndrome de Weill-Marchesani en una familiaen la que cuatro de los ocho hijos presentan esferofaquia,braquimorfia y braquidactilia.Discusión: Existen pocos casos familiares del síndromede Weill-Marchesani reflejados en la literatura.Se han descrito patrones de herencia tantoautosómico dominante como recesivo. El papel deloftalmólogo en su diagnóstico y manejo es esencial,ya que la afectación oftalmológica es la más grave

Case report: We report the case of a child short in ;;stature with brachydactyly and brachymorphy who ;;was referred to our office complaining of poor ;;vision. This was a case of Weill-Marchesani’s syndrome ;;described in a family, in which four of the ;;eight children were affected by spherophakia, ;;brachymorphy and brachydactyly. ;;Discussion: There are few familial cases of Weill- ;;Marchesani’s syndrome reported in the literature. ;;Both autosomal dominant and recessive inheritances ;;have been described. The opththalmologist ;;plays a crucial role in its diagnosis and management, ;;since the ocular involvement is the most severe ;;one

[Integration of orbitary polyethilene implants (MEDPOR). Histologic study]. / Integración de los implantes orbitarios de polietileno (MEDPOR). Estudio histológico.

PURPOSE: We study the histological integration of high-density porous polyethylene orbital implants and its clinical meaning. METHODS: During the last 16 months we have used 14 implants of MEDPOR. Two were removed because of migration, the first one and partial extrusion, the second one, after 3 and 9 months since implantation, respectively. They were preserved and softened in formaldehyde for one month, and later processed for histological study. RESULTS: Macroscopically, a fibrous pseudocapsule firmly attached to the implant was seen. A fibrovascular tissue ingrowth covered the polyethylene porous surface and penetrated its total cross-sectional area. Occasional inflammatory cells were present. There was no evidence of macrophagical activity. CONCLUSIONS: We demonstrate a good fibrovascular integration of the implant at the time of extraction. This means that this material can be successfully used in anophthalmic socket surgery. However, new pathological and clinical studies are necessary to elucidate their biocompatibility in long follow-up time.

Integración de los implantes orbitarios de polietileno (MEDPOR). Estudio histológico / Integration of orbitary polyethilene (MEDPOR) implants. A histological study

Objetivos: Estudio histológico de la integración de los implantes porosos de polietileno de alta densidad (MEDPOR) y su significado clínico. Métodos: Durante los últimos 16 meses hemos empleado 14 implantes orbitarios de polietileno, de los cuales 2 tuvieron que ser retirados: uno por migración, a los 3 meses de su implante, y otro por extrusión parcial, a los 9 meses. Los implantes retirados se introdujeron durante un mes en formaldehído para conseguir su reblandecimiento y posteriormente se procesaron para su estudio histológico. Resultados: Macroscópicamente se observa una envoltura tisular firmemente adherida al material sintético. Al microscopio se objetiva crecimiento de tejido fibrovascular alrededor de la superficie porosa de polietileno que penetra hasta el centro del implante, con presencia ocasional de células inflamatorias. No se puede evidenciar lisis macrofágica del material de polietileno. Conclusiones: Se demuestra la buena integración fibrovascular del material de polietileno poroso en el tiempo de implantación estudiado, lo que prueba la biocompatibilidad del material para la reconstrucción de la cavidad orbitaria. Harán falta más estudios anatomopatológicos y clínicos que diluciden su evolución a largo plazo (AU)