Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
نویسندگان
چکیده
منابع مشابه
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...
متن کاملHearing loss in oto-spondylo-megaepiphyseal dysplasia (OSMED): case studies.
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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Pyle disease is an innocuous autosomal recessive disorder in which mild clinical manifestations contrast with the radiological appearances of gross metaphyseal undermodelling. The disorder was first reported by Pyle* in 19311 as "a case of unusual bone development", when he documented a boy aged five years who presented with knock knees. This child and his affected sister were restudied by Bakw...
متن کاملPyle metaphyseal dysplasia.
Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that primarily affects metaphyses. We report a 12 year old boy with Pyles disease. He had mild facial dysmorphism, genu valgum and wasting of legs. Skeletal radiology revealed the characteristic Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses along with platyspondyly.
متن کامل6.4 Spondylo-epiphyseal dysplasia – a physiotherapy approach
Materials and methods A retrospective review was completed on 6 cases of SED. All physiotherapy assessments of joint range of movement, muscle strength, balance and gait were included. The physiotherapy programme included stretches to restricted joints and a progressive resisted strengthening programme (high repetitions and low resistance weights) completed into the full range of movement of mo...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2009
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2009.11.005