Hypoplastic thumbs and hydranencephaly: a new syndrome?
We report a fetus with hypoplastic thumbs and hydranencephaly. The features did not fit well into any syndrome described in the London dysmorphology database, and we suspect this may represent a previously undescribed syndrome, although a diagnosis of XK-aprosencephaly syndrome remains possible.
Norman
A M
AM
Regional Genetic Service, St Mary's Hospital, Manchester.
Donnai
D
D
D000028:Abortion, Induced; D000328:Adult; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D006832:Hydranencephaly / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*