title: Roberts-SC phocomelia syndrome with exencephaly.
abstract: 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.
authors.affiliation: Center for Human Genetics, Sart Tilman University Hospital, Liege State University, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: C
authors.initials: C
authors.lastname: Herens
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: M C
authors.initials: MC
authors.lastname: Retz
authors.forename: P
authors.initials: P
authors.lastname: Dodinval
mesh_terms: 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