Asunto(s)
Anciano , Anodoncia/diagnóstico , Anodoncia/genética , Biopsia/métodos , Enfermedades del Oído/diagnóstico , Enfermedades del Oído/genética , Enfermedades de los Párpados/diagnóstico , Enfermedades de los Párpados/genética , Humanos , Queratodermia Palmoplantar/diagnóstico , Queratodermia Palmoplantar/genética , MasculinoRESUMEN
We present a case of ectopia cilia in a 28‑year‑old male patient. Ectopia cilia was were seen in the outer third of left upper eyelid. The patient’s maternal grandfather also had ectopia cilia of the left upper eyelid as reported by the patient’s mother. Ectopia cilia is a rare condition seen in humans. Only 12 cases of ectopic cilia in humans have been reported so far in the world. The present case of ectopia cilia is the second case report in the world with pedigree analysis.
Asunto(s)
Adulto , Cilios/epidemiología , Cilios/genética , Quiste Dermoide , Enfermedades de los Párpados/complicaciones , Enfermedades de los Párpados/genética , Humanos , Masculino , Madres , Linaje , TriquiasisRESUMEN
El sindrome denominado blefarofimosis familiar comprende varias anomalias asociadas entre las cuales se destacan: blefarofimosis, blefaroptosis, epicanto inverso y telecanto. Se hereda en forma autosomica dominante con una penetrancia completa. Se han informado en la literatura aproximadamente 180 casos, a los cuales se adicionan 23 detectados en las 2 familias colombianos que estamos reportando a traves de 3 y 4 generaciones (familias A y B respectivamente) y dos esporadicos. Se discuten aspectos clinicos, embriologicos y geneticos relacionados con el sindrome
The blepharophimosis syndrome includes several associated anomalies, namely: blepharophimosis, blepharoptosis, epicanthus inversus and telecanthus. It is inherited as an autosomal dominant defect with essentially 100% penetrance. To the nearly 180 previously reported cases our report adds another 25 occurring in two colombian families through 3 and 4 generations (23 cases) and in 2 sporadic cases. Some related clinical, embryological and genetic aspects of this syndrome are discussed