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Created with Fabric.js 1.4.5 Treatment/ Management Autosomal dominantGene mutations and occurs in people with no history of the disorder in their family.Rarely, people with the syndrome have inherited the altered gene from an unaffected parent who has a gene mutation only in their sperm or egg cells. When a mutation is present only in reproductive cells, it is known as germline mosaicism. A.K.A.Marfanoid-craniosynostosis syndrome Dr. ROBERT SHPRINTZENM. GOLDBERG Inheritance: Phenotype-Gene Relationships Location:Gene/Loci:Gene MIM no.:Phenotype MIM no.:Phenotype Mapping key: LOW -SETOF EARS HYPERTELORISM 1p36.33 SKI 164780 182212 3 RARE MALFORMATIONS syndrome by: Discovered by: BIG EYES CRANIOSYNOSTOSIS CAMPYLODACTYL MANDIBULAR HYPOPLASIA Reference:O'Neill,M. (1995).In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome.American Journal of Human Genetics.USA Goldberg-Shprintzen megacolon syndrome (2006). December 7,2014Retrieved at syndrome (2014). December 7,2014 Retrieved at SYNDROME (2014). Marfan Foundation. Brain MRI Echocardiogram Skeletal survey Surgical evaluation for hernia repair Eye evaluation Surgical correction Shunting Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. People who have this syndrome have a combination of unique facial features, bone abnormalities,and brain deficiencies. Shprintzen-Goldberg syndrome is caused by genetic changes(mutations) in a gene that contributes to the formation of connective tissue. casesof Shprintzen-Goldbergsyndrome have beenreported *It DOES NOT alter lifespan <50 CHARACTERIZED SHPRINTZEN-GOLDBERG SYNDROME worldwide
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