Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype

Kenjiro Kosaki, Cynthia J. Curry, Elizabeth Roeder, Kenneth Lyons Jones

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Ritscher-Schinzel syndrome or 3C (cranio-cerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial defects. Nineteen cases were reported previously; however, the full spectrum of this disorder has not been determined. We have evaluated two unrelated males with this condition. Both had defects of the endocardial cushion and vermis hypoplasia with hypotonia. In addition, both had hypospadias, a previously undescribed finding of this disorder. Review of the previously reported cases and those described herein demonstrate: 1) Although varying degrees of vermis hypoplasia are accompanied by hypotonia, delayed gross motor function improves with advancing age leaving speech delay as the major neurodevelopmental handicap. 2) Two different types of cardiac anomalies occur: defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to complete AV canal, and/or conotruncal defects. 3) Postnatal growth deficiency was seen in most patients in whom longitudinal information was available. In our review of patients with vermis hypoplasia we ascertained a patient diagnosed as having 'Joubert syndrome' who had most findings of the Ritscher-Schinzel syndrome and several other patients with 'Dandy-Walker syndrome' who likely have had Ritscher-Schinzel syndrome, suggesting that Ritscher-Schinzel syndrome is more common than has been appreciated. Careful search for the subtle facial changes characteristic of this disorder as well as coloboma, cleft palate/bifid uvula, short neck, syndactyly, and hypoplasia of the nailsis warranted when evaluating children with Dandy-Walker malformation with or without clinical signs of Joubert syndrome.

Original languageEnglish
Pages (from-to)421-427
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume68
Issue number4
DOIs
Publication statusPublished - 1997 Feb 11
Externally publishedYes

Keywords

  • Dandy-Walker malformation
  • Joubert syndrome
  • endocardial cushion defect
  • hypospadias
  • malrotation of the gut

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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