Article
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.
American journal of medical genetics. Part A - 1 Feb 2014
Castori Marco, Morlino Silvia, Ritelli Marco, Brancati Francesco, De Bernardo Carmelilia, Colombi Marina, Grammatico Paola
Abstract excerpt
Lateral meningocele syndrome (LMS) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. LMS has been observed in eleven patients with two instances of vertical transmission, and seven sporadic cases with an age at diagnosis ranging from 25 months to 33 years. We report on...
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