Images in Clinical Practice Indian Pediatrics 2005; 42:177-178 |
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Marshall Syndrome |
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Marshall syndrome is an autosomal dominant chondrodysplasia characterised by mid-facial hypoplasia, sensorineural deafness and ocular defects (cataract, high myopia). Other abnormalities include ectodermal dysplasia, absent frontal sinuses, falx, tentorial and meningeal calcifications, spondylo-epiphyseal abnormalities including slightly small and irregular distal femoral and proximal tibial epiphyes and wide tufts of distal phalanges. Occasional abnormalities include mental deficiency, retinal detachment and cleft palate. The cataracts may spon-taneously resorb. Marshall syndrome phenotype often resembles Spondyloepiphyseal Dysplasia Congenita (SED Congenita), Congenital Syphillis, Wagner syndrome and Stickler syndrome. Stickler and Marshall syndromes were considered be the same disorder in the past but are now considered distinct. Patients with Stickler syndrome have flat cheek bones, a small jaw and cleft palate. In most cases of Marshall syndrome genetic studies have demonstrated a splicing mutation of 54-bp exons in c-terminal region of COL11A1 gene. Priya Marwah, |