Emanuel syndrome

Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.

Vertebral fusion

A developmental defect leading to the union of two adjacent vertebrae.


合計: 2

                       


（表示件数）
PMID (PMCID)
19353589
 MIXED_SAMPLE Infant
Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome.
Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, Kawano Y.
Am J Med Genet A. 2009;149A(8):1722-6.
Congenital vertebral fusion may be one of the anomalies in supernumerary-der(22)t(11;22) syndrome.
19353589
 MIXED_SAMPLE Infant
Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome.
Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, Kawano Y.
Am J Med Genet A. 2009;149A(8):1722-6.
Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome.