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

✍ Scribed by Kääriäinen, Helena ;Barrow, Margaret ;Hennekam, Raoul

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 568 KB
Volume: 46
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320460224

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✦ Synopsis

RX3

W e 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 (313). This brings the number of reported patients with this condition to 11. Merent 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.

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## Abstract An 11‐year‐old girl was seen with short stature, a head positioned in hyperextension, mild arched palate, prominent joints, limited elbow movements, hyperextensible wrists and fingers, brachydactyly, broad thorax, pectus carinatum, short trunk, a genu valgum, and flat feet. A radiograph