Roberts-SC phocomelia syndrome with exencephaly.
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.
Verloes
A
A
Center for Human Genetics, Sart Tilman University Hospital, Liege State University, Belgium.
Herens
C
C
Van Maldergem
L
L
Retz
M C
MC
Dodinval
P
P
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D002503:Centromere / Q000473:pathology*; D002875:Chromosomes / Q000473:pathology*; D004480:Ectromelia / Q000175:diagnosis / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D008168:Lung / Q000002:abnormalities; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome