Prenatal sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia.
The Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) is a rare, usually lethal condition involving short limbs and occasional hydrocephalus. Presented is a case in which prenatal sonographic findings were highly suggestive of this syndrome, although not definite. In this fetus, findings of hydrocephalus, short limbs, and probable pulmonary hypoplasia changed the intrapartum management. The findings, correlated with the postmortem radiography, led to diagnosis of probable Roberts-SC syndrome.
Sherer
D M
DM
Department of Obstetrics and Gynecology, Strong Memorial Hospital, Rochester, New York 14642.
Shah
Y G
YG
Klionsky
N
N
Woods
J R
JR
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D004480:Ectromelia / Q000000981:diagnostic imaging*; D005260:Female; D005313:Fetal Death; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging*; D008168:Lung / Q000002:abnormalities*; D011247:Pregnancy; D011859:Radiography; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities; D016216:Ultrasonography, Prenatal