Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature

H. Kääriäinen, M. Barrow, R. Hennekam

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Abstract

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
Original languageEnglish
Pages (from-to)223-227
JournalAmerican Journal of Medical Genetics
Volume46
Issue number2
DOIs
Publication statusPublished - 1993

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