A 35 year old primipara presented for routine USG check up at 32-33 weeks of gestation , USG showed fetus in breech presentation with hyperextended neck maintained in opisthotonus position. Head was seen in direct continuity with thoracic spine, cervical spine showed gross curvature. Entire spine could not be evaluated in single scan. Baby was delivered by Ceasarean Section. Our case was suspected for Klippel Feil Syndrome, which was confirmed after birth.
KF Syndrome results from faulty segmentation along the embryo’s developing axis during 3-8 weeks of gestation. It is manifested by cervical vertebral fusion anomalies causing a short neck with decreased mobility. It may be associated with congenital heart diseases, renal and genital anomalies, sprengel’s shoulder and ocular malformations.
Dignosis is made by the presence of short neck associated with opisthotonos (retroflexion of head) and the disorganization of cervical vertebra which is potentially recognized by USG (as seen in our case). Prognosis is poor and complications result from vertebral flexion and include cord compression syndrome, cervical instability and motility impairement. Early diagnosis with termination of pregnancy is offered to these patients before viability.