RESUMO
A girl, who died at 25 days of age, was found to have a partial monosomy due to a 11q23 leads to 11qter deletion. The main clinical findings were trigonocephay, facial dysmorphia, and congenital heart disease. A review of developmental and dysmorphic features of the seventeen recognized cases is presented.
Assuntos
Deleção Cromossômica , Cromossomos Humanos 6-12 e X , Anormalidades Múltiplas/genética , Adulto , Feminino , Humanos , Recém-Nascido , MasculinoRESUMO
The atuhors analyze the case of a three-year-old child suffering from an abnormal condition of the left internal ear, revealed by copious discharge of cerebro-spinal fluid at the onset of 5 attacks of meningitis. A direct approach to the plate and the bony and aponeurotic contents of the oval fossa made it possible to seal this off and this was checked surgically eighteen months later. On this occasion a general survey was carried out into the usual circumstances in which such a discovery is made, pathological concepts and treatment for these accidents. It would appear that unusual permeability may be found either in the internal auditory meatus or in the cochlear aqueduct. Therapeutic procedure depends on circumstances. Blocking the oval fossa is not always effective and should be reserved for cases in which abnormalities impair function. Choice between blocking the internal auditory meatus and eradication of the cochlear aqueduct depends to some extent on the information supplied by tomography, but more on the pathogenetic conclusions reached.