RESUMEN
We report a fetus with an association of cyclopia without proboscis, aprosencephaly and agnathia. Analysing literature cases and the case presented here we can suggest that: 1) not only alobar holoprosencephaly but also more severe forebrain anomalies can be a brain equivalent of cyclopia; 2) aprosencephaly can be viewed as the earliest known variant of prosencephalic series; and 3) "agnathia-holoprosencephaly" association is etiologically heterogeneous.
Asunto(s)
Anomalías Múltiples/genética , Anomalías del Ojo/genética , Holoprosencefalia/genética , Ultrasonografía Prenatal , Anomalías Múltiples/diagnóstico por imagen , Aborto Eugénico , Adulto , Encéfalo/patología , Anomalías del Ojo/diagnóstico por imagen , Femenino , Holoprosencefalia/diagnóstico por imagen , Humanos , Micrognatismo/diagnóstico por imagen , Micrognatismo/genética , EmbarazoRESUMEN
Duodenal stenosis associated with oesophageal atresia was diagnosed by ultrasound at 12 weeks' gestation. The diagnosis was made by recognition of a double bubble sign which was more pronounced when a vaginal transducer was used. Post-abortion autopsy confirmed the diagnosis. Oesophageal and duodenal obstruction in this case had no effect on the amount of amniotic fluid or the alpha-fetoprotein concentration since swallowing and subsequent utilization of amniotic fluid do not occur before 12 weeks of gestation.