title: Familial nonsyndromic craniosynostosis with specific deformity of the cranium.
abstract: An otherwise healthy, developmentally normal 3-week-old male infant presented with complex multisuture craniosynostosis involving the metopic suture and bilateral coronal sutures with frontal prominence and hypotelorism. Frontal craniectomy and bilateral frontoorbital advancement remodeling were performed at the age of 5 months. The postoperative course was uneventful. The child's development was normal up to 8 months after the operation. His father and grandfather had similar specific deformities of the cranium, but no anomaly of the extremities was found, and conversation suggested that their intelligence was normal, excluding the possibility of syndromic craniosynostosis. A DNA analysis revealed large-scale copy number polymorphism of chromosome 4 in the patient and his family, which may include the phenotype of the cranium. Neither FGFR mutation nor absence of a TWIST1 mutation in the sequence from 291 to 1087, which includes DNA binding, Helix1, Loop, and Helix2, was identified. The patient apparently had a rare case of familial nonsyndromic craniosynostosis. The authors plan further genomic analysis of this family and long-term observation of the craniofacial deformity of this patient.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Juntendo Shizuoka Hospital, Izunokuni, Shizuoka, Japan. azusas@juntendo.ac.jp
authors.forename: Azusa
authors.initials: A
authors.lastname: Shimizu
authors.forename: Yuzo
authors.initials: Y
authors.lastname: Komuro
authors.forename: Masakazu
authors.initials: M
authors.lastname: Miyajima
authors.forename: Hajime
authors.initials: H
authors.lastname: Arai
mesh_terms: D003393:Cranial Sutures / Q000473:pathology / Q000601:surgery*; D003398:Craniosynostoses / Q000235:genetics* / Q000601:surgery*; D003399:Craniotomy / Q000379:methods*; D056915:DNA Copy Number Variations; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D016896:Treatment Outcome