RESUMO
We present a sporadic case of colobomatous microphthalmia associated with multiple congenital anomalies. Our purpose is to add a new case of Lenz microphthalmia syndrome to the literature and to draw attention to the typical pattern of facial features of this disease.
Assuntos
Anormalidades Múltiplas , Microftalmia , Anormalidades Múltiplas/diagnóstico , Face/anormalidades , Humanos , Lactente , Masculino , Microftalmia/diagnóstico , Transtornos Psicomotores , Síndrome , Tórax/anormalidadesRESUMO
A pair of monozygotic female twins with SLO syndrome is presented. We have found only one paper in the literature that referred to twins with this rare syndrome. The multiple congenital defects in these cases, consist of limb and genital abnormalities, retardation of growth, mental deficiency, craniofacial defects and abnormal neurological status.
Assuntos
Anormalidades Múltiplas/genética , Genitália Feminina/anormalidades , Deficiência Intelectual/genética , Gêmeos Monozigóticos/genética , Pré-Escolar , Feminino , Genes Recessivos/genética , HumanosRESUMO
The ability of blood and bone marrow neutrophils to reduce nitroblue-tetrazolium both before and after stimulation with Escherichia coli endotoxin was investigated. The polymorphonuclear cells of the bone marrow are less able to reduce the dye than blood cells. This difference is maintained after stimulation by endotoxin. Early forms of neutrophils (myelocytes and metamyelocytes) have some reducing ability but this is more marked after stimulation with endotoxin.
