The Natural History of Patients Treated for TWIST1-Confirmed Saethre-Chotzen Syndrome

Foo, Roy; Guo, Yifan; McDonald‐McGinn, Donna M.; Zackai, Elaine H.; Whitáker, Linton A.; Bartlett, Scott P.

doi:10.1097/prs.0b013e3181bf83ce

Cited by 36 publications

(29 citation statements)

References 16 publications

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“…The TWIST1 Gly32Ser variant was detected in seven people with phenotypes including unaffected, Saethre–Chotzen and metopic craniosynostosis. This variant has been reported previously as being associated with metopic craniosynostosis and Saethre–Chotzen syndrome [Seto et al, ; Foo et al, ]. In silico analysis, however suggests that this is not a pathogenic mutation (Condel score 0.001).…”

Section: Discussionmentioning

confidence: 73%

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

Roscioli

Elakis

Cox

et al. 2013

American J of Med Genetics Pt C

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Craniosynostosis is one of the most common craniofacial disorders encountered in clinical genetics practice, with an overall incidence of 1 in 2,500. Between 30% and 70% of syndromic craniosynostoses are caused by mutations in hotspots in the fibroblast growth factor receptor (FGFR) genes or in the TWIST1 gene with the difference in detection rates likely to be related to different study populations within craniofacial centers. Here we present results from molecular testing of an Australia and New Zealand cohort of 630 individuals with a diagnosis of craniosynostosis. Data were obtained by Sanger sequencing of FGFR1, FGFR2, and FGFR3 hotspot exons and the TWIST1 gene, as well as copy number detection of TWIST1. Of the 630 probands, there were 231 who had one of 80 distinct mutations (36%). Among the 80 mutations, 17 novel sequence variants were detected in three of the four genes screened. In addition to the proband cohort there were 96 individuals who underwent predictive or prenatal testing as part of family studies. Dysmorphic features consistent with the known FGFR1-3/TWIST1-associated syndromes were predictive for mutation detection. We also show a statistically significant association between splice site mutations in FGFR2 and a clinical diagnosis of Pfeiffer syndrome, more severe clinical phenotypes associated with FGFR2 exon 10 versus exon 8 mutations, and more frequent surgical procedures in the presence of a pathogenic mutation. Targeting gene hot spot areas for mutation analysis is a useful strategy to maximize the success of molecular diagnosis for individuals with craniosynostosis.

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Section: Discussionmentioning

confidence: 73%

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

Roscioli

Elakis

Cox

et al. 2013

American J of Med Genetics Pt C

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“…A previous study at our institution documented that only 18% (4 of 22) of SC patients had multisutural involvement, excluding bicoronal synostosis. 1 We have now identified a total of 5 patients in 2 large pediatric institutions presenting with the unique phenotype of severe turribrachycephaly, hypotelorism, wide prominent midline ridge, and synostoses of the metopic, bicoronal, and anterior sagittal sutures, which we have termed ''peace sign synostosis''. Of note, 4 of 5 patients were found to have abnormalities involving the TWIST1 gene, associated with SCS, and the fifth patient had a mutation that may have a downstream effect on TWIST1.…”

Section: Discussionmentioning

confidence: 98%

“…This observation is consistent with the Boston and Paris groups who documented higher rates of reoperation with an increase in the number of affected sutures. 1 In addition, SaethreChotzen patients have a high reoperation rate (65%), even without multisutural synostosis. 13 In our first patient (1), the posterior vault distraction was performed after the initial anterior vault expansion.…”

Section: Discussionmentioning

confidence: 99%

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New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome

Tahiri

Bastidas

McDonald‐McGinn

et al. 2015

Journal of Craniofacial Surgery

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The authors present a new and unique pattern of sutural fusion "peace sign synostosis" (PSS) characterized by synostosis of the metopic, bicoronal, and sagittal sutures and associated with abnormalities of the TWIST1 gene known to be associated with Saethre-Chotzen syndrome (SCS). To do so, we performed a retrospective review of patients with bicoronal, metopic, and at least partial anterior sagittal synostoses at the Children's Hospital of Philadelphia and Seattle Children's Hospital. Patients' demographics, genetic analysis, perioperative and clinic notes were reviewed. Five patients were identified with PSS and abnormalities of TWIST1 consistent with SCS. One patient, with the longest follow-up of 7 years, underwent 5 intracranial procedures and required a ventriculoperitoneal (VP) shunt. The remaining 4 patients underwent posterior cranial vault distraction as the initial procedure, followed by anterior cranial vault remodeling. Two patients required a VP shunt. To conclude, synostosis of the metopic, bicoronal, and sagittal sutures (PSS) appears to be associated with SCS and produces a characteristic skull morphology that can be readily identified on physical examination. Early data suggest a high rate of reoperation, increased necessity for a VP shunt, and potential complications. Of note, this novel phenotype had not been previously observed at our respective institutions, reported in the literature, or observed in association with TWIST1 abnormalities as described in association with SCS.

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“…11 This has allowed for a more selective description of the natural history of these syndromes and aesthetic and functional outcomes that patients and their families can expect. 4,15,16 Despite the growing knowledge base on the syndromic craniosynostoses, there is a paucity of literature on "nonsyndromic" bicoronal synostosis, especially regarding the long-term outcomes and how the trajectory of care compares with that of syndromic patients. Previous studies that focused on nonsyndromic bicoronal synostosis were limited by relatively short follow-up times and, more significantly, by misclassification of study subjects that have since been genetically identified to have syndromic mutations.…”

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confidence: 98%

Analysis of the Long-Term Outcomes of Nonsyndromic Bicoronal Synostosis

Bastidas

Mackay

Taylor

et al. 2012

Plastic &Amp; Reconstructive Surgery

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Isolated nonsyndromic bicoronal synostosis confers a high rate of revisions for contour deformities but is associated with a low risk of complications. Overall, nonsyndromic patients require less secondary fronto-orbital advancement when compared with syndromic patients. In contrast to the syndromic population, there were no instances of midface hypoplasia necessitating surgery. There did not appear to be significant correlation between bicoronal synostosis and developmental abnormalities or delays.

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The Natural History of Patients Treated for TWIST1-Confirmed Saethre-Chotzen Syndrome

Cited by 36 publications

References 16 publications

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome

Analysis of the Long-Term Outcomes of Nonsyndromic Bicoronal Synostosis

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