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Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
Leonardi ML, Pai GS, Wilkes B, Lebel RR. Leonardi ML, et al. Am J Med Genet. 2001 Aug 15;102(3):237-42. Am J Med Genet. 2001. PMID: 11484200 Review.
Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. ...We have had the opportunity recently to study four cases of the Ritscher
Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome charac
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID. Descipio C, et al. Am J Med Genet A. 2005 Apr 1;134A(1):3-11. doi: 10.1002/ajmg.a.30573. Am J Med Genet A. 2005. PMID: 15704124 Review.
Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated based on recurrence in siblings born to unaffected parents and parental consanguinity in two familial cases. Molecular and cytogenetic mapping …
Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated bas …
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
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.
These 8 children belong to 7 families; 3 of the families are related. 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 …
These 8 children belong to 7 families; 3 of the families are related. The parents and other sibs are clinically unaffected. We think …
3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).
Verloes A, Dresse MF, Jovanovic M, Dodinval P, Geubelle F. Verloes A, et al. Clin Genet. 1989 Mar;35(3):205-8. doi: 10.1111/j.1399-0004.1989.tb02929.x. Clin Genet. 1989. PMID: 2650935 Review.
Most of these features have been reported previously by Ritscher, Schinzel et al. in two sibs, who suffered more severe cerebellar malformations (Dandy-Walker cyst or vermis aplasia). We propose 3C syndrome as an easy acronym for this Cranio-Cerebello-Cardiac dyspla …
Most of these features have been reported previously by Ritscher, Schinzel et al. in two sibs, who suffered more severe cerebellar malformat …