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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Oto-spondylo-megaepiphyseal dysplasia (OSMED) is considered to be an autosomal recessive disorder characterized by sensorineural hearing loss, short extremities in spite of normal body length, and abnormally thick joints. We present audiologic results and follow-up of two siblings (normal mother, affected father, 3 of 4 affected children). Given the severity of the hearing loss and, in some cas...
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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>3.0.co;2-o