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Background:
Marshall syndrome is a rare autosomal dominant skeletal dysplasia. It associates a particular facial dysmorphism with midface hypoplasia, ocular abnormalities and sensorineural hearing loss. It is caused by heterozygous mutations in COL11A1 gene coding the 1 chain of collagen XI. Stickler syndrome is the principal differential diagnosi...
Citations
... In the past Marshall syndrome and Stickler syndrome were considered different pathological units with phenotypically similar manifestations. With regard to the discovery of the mutation on the same locus in both syndromes (Marshall syndrome and Stickler syndrome type II -COL11A1), it is necessary to cease to separate these 2 syndromes (6,7,4). ...
... The incidence of the pathology is 1: 7500-9000 newborn infants. The syndrome may be hereditary, autosomal dominant or recessive (1,6,7,8). Abnormal synthesis of collagen type II, XI or IX, located in cartilage, vitreous body, intervertebral discs and inner ear is present in patients. Marshall syndrome is conditioned by the mutation of gene COL11A1. ...
