Clinical and Genetic Analysis of Patients with Saethre-Chotzen Syndrome

Heer, Inge Marieke de; Klein, Annelies de; Ouweland, Ans Mw van den; Vermeij‐Keers, Christl; Wouters, Carine; Vaandrager, J. Michiel; Hovius, Steven E.R.; Hoogeboom, Jeannette

doi:10.1097/01.prs.0000165278.72168.51

Cited by 67 publications

(52 citation statements)

References 36 publications

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“…Indeed Twist is overexpressed in human pediatric osteosarcomas, in N-Myc-amplified neuroblastomas to override the p53 pathway, and is a target of transcriptional deregulation in experimental nephroblastoma [28][29][30]. Other potential candidates for a similar role are members of the Snail and Slug family genes that enhance carniosynostosis associated with Saethre-Chotezen Syndrome [31,32].…”

Section: Discussionmentioning

confidence: 95%

Birthweight by gestational age and childhood cancer

Schüz

Forman

2007

Cancer Causes Control

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The objective of this research was to compare the association of birthweight alone with gender-specific birthweight-for-gestational age on childhood cancer risk in a large population-based case-control study in Germany. Incident cases of childhood cancer (n=2,024, diagnosed 1992-1994) were ascertained from the German Childhood Cancer Registry. Controls were randomly drawn from population registries. Parents reported risk factor information in a mailed questionnaire and telephone interview. The odds ratio for acute lymphoblastic leukemia (ALL) was 1.41 (95% confidence interval 1.08-1.84) in the high-birthweight category (>4 kg) and was 1.45 (1.07-1.97) in the large-for-gestational age (LGA) category compared to the normal birthweight (2.5-4 kg) and the appropriate-for-gestational age (AGA) categories, respectively. However, the agreement between the birthweight and birthweight-for-gestational age was only moderate. Subgroup analyses revealed elevated odds ratios for ALL and CNS tumors in first born's who were LGA but of normal birth weight. Thus, two findings from this post-hoc analysis are worthy of note: (1) the use of birthweight-for-gestation age categories within birthweight sub-groups potentially identified new high-risk groups among firstborns for ALL tumors and among all children for CNS tumors; and (2) although the magnitudes of risk estimators for ALL were comparable in the traditional high-birthweight group and in the LGA, the same children were not jointly classified in the same newborn categories indicating two potentially different subsets of children at risk.

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Section: Discussionmentioning

confidence: 95%

Birthweight by gestational age and childhood cancer

Schüz

Forman

2007

Cancer Causes Control

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“…Syndromes associated with trigonocephaly are:Baller–Gerold [76, 93]Muenke [96]Saethre–Chotzen [20]Say–Mayer [83]Opitz C [36, 82]…”

Section: Frontal Stenosismentioning

confidence: 99%

Metopic synostosis

Meulen

2012

Childs Nerv Syst

142

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Premature closure of the metopic suture results in a growth restriction of the frontal bones, which leads to a skull malformation known as trigonocephaly. Over the course of recent decades, its incidence has been rising, currently making it the second most common type of craniosynostosis. Treatment consists of a cranioplasty, usually preformed before the age of 1 year. Metopic synostosis is linked with an increased level of neurodevelopmental delays. Theories on the etiology of these delays range from a reduced volume of the anterior cranial fossa to intrinsic malformations of the brain. This paper aims to provide an overview of this entity by giving an update on the epidemiology, etiology, evolution of treatment, follow-up, and neurodevelopment of metopic synostosis.

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“…Wellknown syndromes are the Apert, Crouzon, Pfeiffer, Muenke, and Saethre-Chotzen syndromes, caused by changes in the genes for fibroblast growth factor receptor (FGFR) 1, 2, and 3 and in the TWIST1 gene. [2][3][4] If no mutation is found and 2 or more sutures are closed, the condition is referred to as complex craniosynostosis. 5,6 Characteristics of syndromic craniosynostosis are shown in Table 1.…”

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confidence: 99%

Intellectual, Behavioral, and Emotional Functioning in Children With Syndromic Craniosynostosis

Maliepaard

Mathijssen²,

Oosterlaan

et al. 2014

Pediatrics

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WHAT'S KNOWN ON THIS SUBJECT: Children who have syndromic craniosynostosis are at risk for developing intellectual disability, behavioral and emotional problems. Study results were often based on small samples and wide age-based variation, using nonvalidated instruments and describing no clear inclusion and exclusion criteria.WHAT THIS STUDY ADDS: Intellectual, behavioral, and emotional functioning is described in a national sample (N = 82) of schoolaged children with syndromic craniosynostosis. Using standardized instruments, this study indicates higher risks for intellectual disability and behavioral problems mainly in children having Apert and Muenke syndromes. abstract OBJECTIVES: To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. METHODS:A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual, behavioral, and emotional outcomes were assessed by using standardized measures: Wechsler Intelligence Scale for Children, Third Edition, Child Behavior Checklist (CBCL)/6-18, Disruptive Behavior Disorder rating scale (DBD), and the National Institute of Mental Health Diagnostic Interview Schedule for Children. RESULTS:We included 82 children (39 boys) aged 6 to 13 years who have syndromic craniosynostosis. Mean Full-Scale IQ (FSIQ) was in the normal range (M = 96.6; SD = 21.6). However, children who have syndromic craniosynostosis had a 1.9 times higher risk for developing intellectual disability (FSIQ ,85) compared with the normative population (P ,.001) and had more behavioral and emotional problems compared with the normative population, including higher scores on the CBCL/6-18, DBD Total Problems (P , .001), Internalizing (P , .01), social problems (P , .001), attention problems (P , .001), and the DBD Inattention (P , .001).Children who have Apert syndrome had lower FSIQs (M = 76.7; SD = 13.3) and children who have Muenke syndrome had more social problems (P , .01), attention problems (P , .05), and inattention problems (P , .01) than normative population and with other diagnostic subgroups. CONCLUSIONS: Although children who have syndromic craniosynostosishave FSIQs similar to the normative population, they are at increased risk for developing intellectual disability, internalizing, social, and attention problems. Higher levels of behavioral and emotional problems were related to lower levels of intellectual functioning. Pediatrics 2014;133:e1608-e1615 AUTHORS:

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Clinical and Genetic Analysis of Patients with Saethre-Chotzen Syndrome

Cited by 67 publications

References 36 publications

Birthweight by gestational age and childhood cancer

Birthweight by gestational age and childhood cancer

Metopic synostosis

Intellectual, Behavioral, and Emotional Functioning in Children With Syndromic Craniosynostosis

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