Kääriäinen H, Barrow M, Hennekam R
Department of Medical Genetics, University of Helsinki, Finland.
Am J Med Genet. 1993 Apr 15;46(2):223-7. doi: 10.1002/ajmg.1320460224.
We report on 3 unrelated patients with a syndrome of sensorineural deafness (3/3), midface hypoplasia (3/3), disproportionate shortness with short limbs (3/3), cleft palate or bifid uvula (3/3), and lack of high myopia (3/3). This brings the number of reported patients with this condition to 11. Different names such as oto-spondylo-megaepiphyseal dysplasia (OSMED) or the Insley-Astley syndrome have been used. We propose the name "syndrome of bone dysplasia, midface hypoplasia, and deafness" which lists the 3 main manifestations of the condition.
