Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.
We describe 2 sibs with Roberts-SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of gestation failed to identify specific abnormalities, repeat scan at 17 weeks detected tetraphocomelia. Ultrasonography can reliably detect Roberts-SC phocomelia prenatally; however, serial scans may be needed. Postmortem examination of the proposita confirmed the sonographic findings and also disclosed dysplastic kidneys and ovarian dysgenesis. The degree of phenotypic variation observed between the sibs supports the hypothesis that Roberts syndrome and SC phocomelia represent a single genetic entity.
Robins
D B
DB
Department of Pathology, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey 17033.
Ladda
R L
RL
Thieme
G A
GA
Boal
D K
DK
Emanuel
B S
BS
Zackai
E H
EH
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D004480:Ectromelia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005333:Fetus; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography