Roberts-SC phocomelia syndrome with exencephaly.

Ann Genet

Center for Human Genetics, Sart Tilman University Hospital, Liege State University, Belgium.

Published: December 1989

We report a 18 weeks old fetus with the typical limb reduction anomalies of SC phocomelia syndrome, associated with exencephaly and unilateral anophthalmia, a feature previously reported in only 2 cases of severe Roberts syndrome. This observation brings another argument for lumping both diseases in a unique Roberts-SC phocomelia syndrome. Diagnosis was settled by the observation of premature centromeric splitting.

Download full-text PDF

Source

Publication Analysis

Top Keywords

phocomelia syndrome
12
roberts-sc phocomelia
8
syndrome
4
syndrome exencephaly
4
exencephaly report
4
report weeks
4
weeks fetus
4
fetus typical
4
typical limb
4
limb reduction
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!