Prenatal ultrasound detection of humero-radial synostosis in a case of antley-bixler syndrome

The Antley-Bixler syndrome is characterized by multiple skeletal fusions including humero-radial synostosis, anterior bowing of the femora, cardiac and renal malformations and a high incidence of early postnatal lethality. In the pregnancy of a mother who had previously given birth to a child with the Antley-Bixler syndrome, prenatal ultrasound diagnosis was performed at 17 and 20 weeks. Fixed flexion of about 80° in both elbows was seen together with humero-radial synostosis and bowing of the ulnae. The fetus performed jerky cranio-caudal movements in its shoulders, but did not, during five hours of real-time observation, move at all in the elbows. Mild anterior bowing of the femora was also observed. The pregnancy was terminated at 21 weeks, and radiological examination of the female fetus confirmed the above mentioned findings including complete bilateral humero-radial synostosis. She also had cardiac and renal malformations. An ultrasound diagnosis of syndromes which have humero-radial synostosis as one feature is possible. Immobility and flexion in the elbows during a long period is probably the essential diagnostic finding.