Atrioventricular canal and 3C (cranio‐cerebello‐cardiac) syndrome

Digilio, María Cristina; Marino, Bruno; Giannotti, Aldo; Mingarelli, Rita; Dallapiccola, Bruno

doi:10.1002/ajmg.1320580120

Cited by 17 publications

(17 citation statements)

References 14 publications

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“…In most cases the reported birth length is within normal limits (10th centile or greater) [Digilio et al, 1995;Kosaki et al, 1997;Verloes et al, 1989;Ritscher et al, 1987;Saraiva et al, 1995]. The presence of short stature in older children with the 3C syndrome is difficult to quantify.…”

Section: Discussionmentioning

confidence: 95%

“…In several reports, the affected children are less than six months old, and there is significant early mortality usually due to congenital heart disease [Mims and Says, 1989;Verloes et al, 1989;Marles et al, 1995;Orstavik et al, 1998]. When length/height was reported in children older than 6 months, 6 of 6 children had a length/height below the 10th centile [Hoo et al, 1994;Digilio et al, 1995;Gurrieri et al, 1992;Kosaki et al, 1997;Ritscher et al, 1987]. Our patient clearly has growth hormone deficiency as documented by subnormal growth hormone secretory response to provocative stimulation, low concentration of IGF-1, and acceleration of growth rate with treatment.…”

Section: Discussionmentioning

confidence: 96%

“…Cranio-cerebello-cardiac dysplasia (3C syndrome) was first reported in 1987 by Ritscher et al Subsequently, at least 20 patients have been reported [Digilio et al, 1995;Gurrieri and Neri, 1992;Hoo et al, 1994;Kosaki et al, 1997;Marles et al, 1995;Mims and Say, 1989;Orstavik et al, 1998;Saraiva et al, 1995;Verloes et al, 1989]. A recent review nicely details a summary of this condition [Kosaki et al, 1997].…”

Section: Introductionmentioning

confidence: 93%

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The 3C syndrome: Evolution of the phenotype and growth hormone deficiency

1999

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The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinzel syndrome) is a recently delineated condition involving abnormalities of the cranium (large head with prominent forehead), cerebellum (Dandy-Walker cyst and vermis hypoplasia), and cardiac (primarily septal) defects. At least 20 individuals with this condition have been reported in the past 11 years. We report on a girl with the 3C syndrome who at 13 years of age is the oldest patient reported to date. She has been followed since birth, allowing us to show the evolution of her phenotype over time. In addition, she has documented growth hormone deficiency. We suggest that growth hormone deficiency should be considered as a possible cause of the short stature often seen in this condition.

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Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 93%

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The 3C syndrome: Evolution of the phenotype and growth hormone deficiency

1999

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“…Along with septal defects, two different types of CHD occur: defects of the endocardial cushion ranging from anomalies of the mitral valve or tricuspid valve to complete AVCD, and conotruncal defect (Kosaki et al, 1997). AVCD was present in four of the 28 cases of a previously published study from our group (Digilio et al, 1995b).…”

Section: Genetic Syndromes and Extracardiac Malformationsmentioning

confidence: 96%

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

Vergara

Digilio

Zorzi

et al. 2006

Clinical Dysmorphology

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Tetralogy of Fallot associated with the atrioventricular canal defect has been usually reported in association with Down syndrome. The aim of the present study was to describe the cardiac aspects and the genetic anomalies in children with this association of heart defects. We identified 64 patients with atrioventricular canal defect tetralogy of Fallot. All children underwent complete cardiovascular, clinical phenotypic and genetic evaluation. A genetic syndrome or extracardiac anomalies were found in 56 patients (87.5%). Down syndrome (43 patients, 67.2%) was the most frequent genetic diagnosis. Other syndromes were 8p deletion, trisomy 13, duplication 5p, cranio-cerebello-cardiac syndrome, Cantrell syndrome, CHARGE association, VACTERL association, and DiGeorge syndrome related to maternal diabetes. No patients in our series had 22q11 deletion. Tetralogy of Fallot with extreme dextroposition of the aorta was found in seven patients (only one with Down syndrome). Additional cardiac malformations were present in 23 patients (only 11 with Down syndrome). The association between atrioventricular canal defect and tetralogy of Fallot represents a cardiac phenotype with strong genetic characteristics. For this reason, a careful genetic examination is required. Our study confirms the high prevalence of Down syndrome, but also reveals a significant genetic heterogeneity. Additional cardiac defects are prevalent in patients without Down syndrome.

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“…The variety of CVM in this syndrome was studied recently by Digilio et al [1995]. Four cases of 3C syndrome found in the BaltimoreWashington Infant Study (BWIS) prompted us to reanalyze this spectrum.…”

Section: Introductionmentioning

confidence: 97%

“Shifted” threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example

Lurie

Ferencz

1996

Am. J. Med. Genet.

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The analysis of cardiovascular malformations (CVM) in 3C (Ritscher-Schinzel) syndrome showed at least 9 types of CVM in 24 cases, including 4 cases from the Baltimore-Washington Infant Study. The proportion of different CVM forms was similar to that of the general population. The same is also true for many other syndromes of multiple congenital abnormalities (MCA), due either to aneuploidy or to Mendelian mutation. Such a wide spectrum of very different CVM in patients with the same entity has yet to be explained. According to the hypothesis proposed, the basic mutation (or chromosome imbalance) affects cellular homeostasis and leads to the "shifting" of a threshold to the left. This allows the expression of some genes silent under normal conditions. The principle of the shifted threshold is applicable to the explanation of the origin of many other defects in MCA syndromes.

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Atrioventricular canal and 3C (cranio‐cerebello‐cardiac) syndrome

Cited by 17 publications

References 14 publications

The 3C syndrome: Evolution of the phenotype and growth hormone deficiency

The 3C syndrome: Evolution of the phenotype and growth hormone deficiency

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

“Shifted” threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example

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