Ritscher-schinzel (3c) syndrome: Documentation of the phenotype and its relationship to "Joubert syndrome with chorioretinal coloboma"

Kenjiro Kosaki, C. Curry, E. Roeder, K. L. Jones

Research output: Contribution to journalArticle

Abstract

Ritscher-Schinzel syndrome or 3C (cranio-cerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial detects. Although twelve cases previously have been reported, the full spectrum of this condition 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 feature of this disorder. Review of the previously reported cases as well as those herein described reveal the following: 1) Although varying degrees of vermis hypoplasia are accompanied by hypotonia, delayed gross motorfunction 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 (Tetralogy of Fallot and double outlet right ventricle). 3) Postnatal growth deficiency was seen in the majority of cases in whom longitudinal information was available. 4) Ritscher-Schinzel syndrome and "Joubert syndrome with bilateral chorioretinal coloboma (MIM 243910)," which is distinctive from "Joubert syndrome with retinal dysplasia (Dekaban syndrome, MIM 213300)," most likely represent the same disorder.

Original languageEnglish
JournalJournal of Investigative Medicine
Volume44
Issue number1
Publication statusPublished - 1996
Externally publishedYes

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Endocardial Cushion Defects
Coloboma
Muscle Hypotonia
Documentation
Retinal Dysplasia
Double Outlet Right Ventricle
Language Development Disorders
Phenotype
Hypospadias
Defects
Tricuspid Valve
Tetralogy of Fallot
Mitral Valve
Canals
Growth
3C syndrome
Joubert syndrome 1

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

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title = "Ritscher-schinzel (3c) syndrome: Documentation of the phenotype and its relationship to {"}Joubert syndrome with chorioretinal coloboma{"}",
abstract = "Ritscher-Schinzel syndrome or 3C (cranio-cerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial detects. Although twelve cases previously have been reported, the full spectrum of this condition 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 feature of this disorder. Review of the previously reported cases as well as those herein described reveal the following: 1) Although varying degrees of vermis hypoplasia are accompanied by hypotonia, delayed gross motorfunction 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 (Tetralogy of Fallot and double outlet right ventricle). 3) Postnatal growth deficiency was seen in the majority of cases in whom longitudinal information was available. 4) Ritscher-Schinzel syndrome and {"}Joubert syndrome with bilateral chorioretinal coloboma (MIM 243910),{"} which is distinctive from {"}Joubert syndrome with retinal dysplasia (Dekaban syndrome, MIM 213300),{"} most likely represent the same disorder.",
author = "Kenjiro Kosaki and C. Curry and E. Roeder and Jones, {K. L.}",
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T1 - Ritscher-schinzel (3c) syndrome

T2 - Documentation of the phenotype and its relationship to "Joubert syndrome with chorioretinal coloboma"

AU - Kosaki, Kenjiro

AU - Curry, C.

AU - Roeder, E.

AU - Jones, K. L.

PY - 1996

Y1 - 1996

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AB - Ritscher-Schinzel syndrome or 3C (cranio-cerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial detects. Although twelve cases previously have been reported, the full spectrum of this condition 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 feature of this disorder. Review of the previously reported cases as well as those herein described reveal the following: 1) Although varying degrees of vermis hypoplasia are accompanied by hypotonia, delayed gross motorfunction 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 (Tetralogy of Fallot and double outlet right ventricle). 3) Postnatal growth deficiency was seen in the majority of cases in whom longitudinal information was available. 4) Ritscher-Schinzel syndrome and "Joubert syndrome with bilateral chorioretinal coloboma (MIM 243910)," which is distinctive from "Joubert syndrome with retinal dysplasia (Dekaban syndrome, MIM 213300)," most likely represent the same disorder.

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