title: New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis.
abstract: 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.
authors.affiliation: *Division of Plastic Surgery, Riley Hospital for Children, Indianapolis IN †Division of Plastic Surgery, Children's Hospital of Philadelphia, Philadelphia, PA ‡Division of Plastic Surgery, Seattle Children's Hospital, Seattle, WA.
authors.forename: Youssef
authors.initials: Y
authors.lastname: Tahiri
authors.forename: Nicholas
authors.initials: N
authors.lastname: Bastidas
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Craig
authors.initials: C
authors.lastname: Birgfeld
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Jesse
authors.initials: J
authors.lastname: Taylor
authors.forename: Scott P
authors.initials: SP
authors.lastname: Bartlett
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000601:surgery; D003393:Cranial Sutures / Q000002:abnormalities / Q000601:surgery; D003398:Craniosynostoses / Q000235:genetics* / Q000601:surgery; D003399:Craniotomy / Q000379:methods; D005260:Female; D005500:Follow-Up Studies; D005624:Frontal Bone / Q000002:abnormalities / Q000601:surgery; D017353:Gene Deletion; D020440:Gene Duplication / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D019857:Osteogenesis, Distraction / Q000379:methods; D010294:Parietal Bone / Q000002:abnormalities / Q000601:surgery; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D019651:Plastic Surgery Procedures / Q000379:methods; D012086:Reoperation; D012189:Retrospective Studies; D051879:Twist-Related Protein 1 / Q000235:genetics*; D017287:Ventriculoperitoneal Shunt
chemical_list: D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1