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Definition of Strømme syndrome (Stromme)

Strømme syndrome: a rare genetic condition characterized by birth defects or abnormalities in the eyes, intestines, and skull. The abnormalities vary among affected people, and sometimes problems with the kidneys or heart are also present. The condition results from a mutation in a gene known as CENPF, and it is inherited in an autosomal recessive manner, meaning that to be affected, an individual must receive a copy of the defective gene from each parent.

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References


Dorum, BA., et al. "Stromme Syndrome: New Clinical Features." APSP J Case Rep. 2017 Mar-Apr; 8(2): 14. Published online 2017 Mar 18. doi: 10.21699/ajcr.v8i2.564 PMCID: PMC5371687 Stromme Syndrome: New Clini.
<https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371687/>

Stromme P, et al. "Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly." Clin Genet. 1993;44:208-10
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