Oto‐spondylo‐megaepiphyseal dysplasia (OSMED): Clinical description of three patients homozygous for a missense mutation in the COL11A2 gene
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Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
We describe a syndrome of midface hypoplasia, non-progressive sensorineural deafness and epiphyseal dysplasia in 3 sibs born to consanguineous parents. Clinical and roentgenographic findings are compatible with a diagnosis of oto-spondylo-megaepiphyseal dysplasia (OSMED). Histologic study of cartilage shows severe osteoarthritis, which may necessitate joint replacements in early adulthood. Ultr...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 1997
ISSN: 0148-7299,1096-8628
DOI: 10.1002/(sici)1096-8628(19970613)70:3<315::aid-ajmg19>3.3.co;2-y