Weissenbacher-Zweymüller syndrome I
This congenital syndrome is considered a neonatal expression of Wagner's syndrome. It is characterized by sensorineural deafness, short limbs, and abnormal thickness of the joints, especially of the knees and elbows (dumbbell-shaped femora and humeri). Cleft palate occurs in most cases. The main radiological findings consist of large epiphyses and moderate platyspondyly, especially in the lower thoracic region. The symptoms are usually present at birth and become more apparent in later childhood, consisting mainly of back pain and progressive joint stiffness.
Weissenbacher-Zweymüller Syndrome was originally known as Pierre Robin Syndrome with fetal chondrodysplasia. Compared to Stickler's syndrome it has more severe skeletal effects and delayed neonatal development, but may lack the eye and joint problems of Stickler's syndrome. Unlike Stickler's syndrome it is recessive, not dominant.
Instley-Astley syndrome is entered as Nance-Sweeney syndrome, under Walter Elmore Nance, American internist and human geneticist, born 1933.
- G. Weissenbacher, E. Zweymüller:
Gleichseitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie. Monatsschrift Kinderheilkunde, 1964, 112: 315-317.
- J. Insley, R. Astley:
A bone dysplasia with deafness.
British Journal of Radiology, London, 1974, 47: 244-251.
- Andreas Giedion, M. Brandner, J. Lecannellier, U. Muhar, Andrea Prader, J. Sulzer, E. Zweymüller:
Oto-spondylo-megaepiphyseal dysplasia (OSMED).
Helvetica paediatrica acta, Basel, 1982, 37: 361-380.