Roberts syndrome: antenatal ultrasound--a case report.
There is obvious confusion and overlap involving these various syndromes, i.e., Roberts syndrome, SC phocomelia, and TAR syndrome. However, the patient reported here seemed to exhibit the features of shortened upper extremities, clefting, and microbrachycephaly characteristic of Roberts syndrome. Antenatal detection of Roberts syndrome may be important in that early neonatal death can be expected. Other similar syndromes may have much longer survival. Cytogenetic abnormalities may be detected as well. It appears that routine ultrasonographic assessment of humerus length in addition to femur length may yield certain diagnoses that otherwise would be missed. The parents can be counselled concerning antenatal management including the possibility of not performing a cesarean section for some abnormal presentations.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002972:Cleft Palate / Q000175:diagnosis; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D006849:Hydrocephalus / Q000175:diagnosis; D008831:Microcephaly / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography