Shprintzen goldberg syndrome is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Shprintzengoldberg syndrome is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. For language access assistance, contact the ncats public information officer. Pdf shprintzengoldberg syndrome is an extremely infrequent disorder of connective tissue, characterized by craniosynostosis and. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for shprintzengoldberg. Shprintzengoldberg craniosynostosis syndrome genetic and rare. The term furlong syndrome has been used to describe one individual with craniosynostosis, features of sgs, normal intelligence, and aortic enlargement. Pdf shprintzengoldberg syndrome is a rare syndrome with craniosynostosis of coronal, sagittal or lambdoidal sutures, dolichocephaly. Tutte le suddette sindromi tuttavia, a differenza della sindrome. Goldbergshprintzen megacolon syndrome genetic and rare. If you have problems viewing pdf files, download the latest version of adobe reader.
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