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  • This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. The syndrome has been described in four patients (three males and one female) from the same family. The male patients presented with the complete phenotype while the female patient suffered only from blindness. No mutations were found in the FBN1, TGFBR1 and TGFBR2 genes that are associated with other syndromes presenting similar clinical findings.
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