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

Abstract

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 degrees in both elbows was seen together with humero-radial synostosis and bowing of the ulnae. The fetus performed jerky craniocaudal 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.

Antley‐Bixler syndrome: report of a patient and review of literature

“…Although most cases were sporadic, there were two reports in the literature of recurrence in both sexes, suggesting an autosomal recessive mode of inheritance (Yasui et al 1983, Kotoh et al 1987. Prenatal diagnosis of this syndrome has been reported previously (Savoldelli & Schinzel 1982, Schinzel et al 1983, Jacobson et al 1992. Prenatal ultrasound studies during mid-trimester should be undertaken to identify the presence of multiple congenital anomalies, specifically musculo-skeletal and craniofacial abnormalities, in the fetus at risk for An tley-Bixler syndrome.…”

“…In 1975, Antley & Bixler reported a child with trapezoidocephaly, mid-face hypoplasia, radiohumeral synostosis, bowing of femora, fractures and craniofacial abnormalities. Since that time, at least 13 patients have been reported (Antley & Bixler 1975, Lacheretz et al 1974, DeLozier et al 1980, Robinson et al 1982, Savoldelli & Schinzel 1982, Schinzel et al 1983, Yasui et al 1983, Robert et al 1984, Kotoh et al 1987, Escobar et al 1988, DeLozier-Blanchet 1989, Jacobson et al 1992, Antich et al 1993. Based on reported cases, prenatal and postnatal growth are usually normal, but the neonatal course is frequently complicated by upper respiratory obstruction secondary to choanal stenosis/atresia.…”

Sonographic Diagnosis of Antley-Bixler PORD-Type Syndrome

“…4 However, with prompt intervention, including tracheostomy and alleviation of the craniosynostosis through infant surgery, the prognosis can be "quite satisfactory development." 1,5,6,9,34 Regarding synostosis specifically, many other authors believe the prognosis of resecting or correcting it is very poor, and surgical interventions should be avoided due to recurrence. 7,17,27 In general, active physical therapy has been reported to be effective in maintaining and improving the range of movement in patients with ABS.…”

Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988–2006)

“…Thus, SWS should always be considered in the perinatal setting when a newborn has thermal dysregulation and respiratory distress along with angulated femora. Among the less frequently seen entities (<1%) known to be associated with femoral bowing such as Caffey disease, prenatal type [Caffey, 1947], and Antley–Bixler syndrome, a rare autosomal recessive entity associated with radiohumeral synostosis as well as craniosynostosis [Savoldelli and Schinzel, 1982].…”