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1.
Prenat Diagn ; 13(5): 371-6, 1993 May.
Article in English | MEDLINE | ID: mdl-8341635

ABSTRACT

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.


Subject(s)
Duodenal Obstruction/congenital , Esophageal Atresia/complications , Intestinal Atresia/complications , Ultrasonography, Prenatal , Abortion, Therapeutic , Adult , Amniocentesis , Chorionic Villi Sampling , Duodenal Obstruction/diagnostic imaging , Duodenal Obstruction/pathology , Esophageal Atresia/diagnostic imaging , Esophageal Atresia/pathology , Female , Humans , Intestinal Atresia/diagnostic imaging , Intestinal Atresia/pathology , Pregnancy , Pregnancy Trimester, First , Stomach/abnormalities , Stomach/diagnostic imaging
2.
Genet Couns ; 3(3): 127-32, 1992.
Article in English | MEDLINE | ID: mdl-1388930

ABSTRACT

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.


Subject(s)
Abnormalities, Multiple/genetics , Eye Abnormalities/genetics , Holoprosencephaly/genetics , Ultrasonography, Prenatal , Abnormalities, Multiple/diagnostic imaging , Abortion, Eugenic , Adult , Brain/pathology , Eye Abnormalities/diagnostic imaging , Female , Holoprosencephaly/diagnostic imaging , Humans , Micrognathism/diagnostic imaging , Micrognathism/genetics , Pregnancy
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