title: Severe craniosynostosis in an infant with deletion 22q11.2 syndrome.
abstract: We report a male infant with 22q11.2 deletion syndrome and very severe multi-sutural craniosynostosis associated with increased intracranial pressure, marked displacement of brain structures, and extensive erosion of the skull. While uni- or bi-sultural craniosynostosis is a recognized (though relatively uncommon) feature of 22q11 deletion syndrome, a severe multi-sutural presentation of this nature has never been reported. SNP Microarray was otherwise normal and the patient did not have common mutations in FGFR2, FGFR3, or TWIST associated with craniosynostosis. While markedly variable expressivity is an acknowledged feature of deletion 22q11 syndrome, herein we also consider and discuss the possibility that this infant may have been additionally affected with an undiagnosed single gene disorder.
authors.affiliation: Department of Genetics, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: W
authors.initials: W
authors.lastname: Al-Hertani
authors.forename: V A
authors.initials: VA
authors.lastname: Hastings
authors.forename: J
authors.initials: J
authors.lastname: McGowan-Jordan
authors.forename: J
authors.initials: J
authors.lastname: Hurteau
authors.forename: Gail E
authors.initials: GE
authors.lastname: Graham
mesh_terms: D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007223:Infant; D059785:Karyotype; D008297:Male; D046228:Microarray Analysis; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D017422:Sequence Analysis, DNA; D051879:Twist-Related Protein 1 / Q000235:genetics
chemical_list: D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1; C496353:FGFR2 protein, human; C496365:FGFR3 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2; D051498:Receptor, Fibroblast Growth Factor, Type 3