Down syndrome--novel associations: antenatal strawberry-shaped skull, severe neonatal hepatitis and an unusual form of portosystemic hepatic shunt.

نویسندگان

  • Ignatius Losa
  • Adedayo Owoeye
چکیده

To cite: Losa I, Owoeye A. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-212852 DESCRIPTION A fetal anomaly scan at 13 weeks gestation showed cystic hygroma and amnion separation. Further scans at 19 weeks revealed a ‘strawberry-shaped skull’ (figure 1). Additional findings were increased nuchal translucency, ventriculomegaly and polyhydramnios. These were suggestive of trisomy 18. An antenatal sonographic finding of a strawberry-shaped skull is a marker of serious fetal malformation, most commonly associated with trisomy 18 and thanatophoric dysplasia. The risk of miscarriage is increased with amnion separation. The parents declined a termination. At 22 days of age, the patient presented with prolonged conjugated jaundice. He was exclusively

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عنوان ژورنال:
  • BMJ case reports

دوره 2015  شماره 

صفحات  -

تاریخ انتشار 2015