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Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.
Kosaki K, Curry CJ, Roeder E, Jones KL. Kosaki K, et al. Am J Med Genet. 1997 Feb 11;68(4):421-7. doi: 10.1002/(sici)1096-8628(19970211)68:4<421::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9021015 Review.
Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial defects. ...In our review of patients with vermis hypoplasia we ascertained a patient diagnosed as having "Joube …
Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar ver …
The 6p subtelomere deletion syndrome.
DeScipio C. DeScipio C. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):377-82. doi: 10.1002/ajmg.c.30156. Am J Med Genet C Semin Med Genet. 2007. PMID: 17918735 Review.
These features demonstrate considerable clinical overlap with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Isolated submiscroscopic 6p25 subtelomere terminal deletion has been reported in 11 individuals, two of whom are siblings. …
These features demonstrate considerable clinical overlap with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome …
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Assoum M, Bruel AL, Crenshaw ML, Delanne J, Wentzensen IM, McWalter K, Dent KM, Vitobello A, Kuentz P, Thevenon J, Duffourd Y, Thauvin-Robinet C, Faivre L. Assoum M, et al. Am J Med Genet A. 2020 Apr;182(4):792-797. doi: 10.1002/ajmg.a.61487. Epub 2020 Jan 18. Am J Med Genet A. 2020. PMID: 31953988 Review.
Here we describe three additional patients (from two unrelated families) with syndromic ID due to compound heterozygous KIAA1033 variants ascertained by exome sequencing (ES). Two sisters, aged 4 and 5.5 years, had a stop-gain and a missense variants, each inherited from o …
Here we describe three additional patients (from two unrelated families) with syndromic ID due to compound heterozygous KIAA1033 variants as …
Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians.
Marles SL, Chodirker BN, Greenberg CR, Chudley AE. Marles SL, et al. Am J Med Genet. 1995 May 8;56(4):343-50. doi: 10.1002/ajmg.1320560402. Am J Med Genet. 1995. PMID: 7604842 Review.
The parents and other sibs are clinically unaffected. We think these manifestations provide evidence for Ritscher-Schinzel syndrome in native Canadian children, and we have confirmed that ocular colobomas are a common occurrence in this disorder....
The parents and other sibs are clinically unaffected. We think these manifestations provide evidence for Ritscher-Schinzel …