title: Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.
abstract: We report the case of a developmentally appropriate infant male with a de novo unbalanced chromosome translocation involving bands 2q32.1 and 7p21.3. The child was noted to have metopic and bicoronal craniosynostosis with closely spaced eyes, turricephaly, and flattening of the forehead. © 2016 Wiley Periodicals, Inc.
authors: Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
authors: James J
authors: JJ
authors: O'Byrne
authors: Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
authors: Helen
authors: H
authors: Ryan
authors: National Paediatric Craniofacial Centre, Temple Street Children's University Hospital, Dublin, Ireland.
authors: Dylan J
authors: DJ
authors: Murray
authors: National Children's Research Centre, Crumlin, Dublin, Ireland.
authors: Regina
authors: R
authors: Regan
authors: Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
authors: David R
authors: DR
authors: Betts
authors: Department of Endocrinology, Temple Street Children's University Hospital, Dublin, Ireland.
authors: Nuala
authors: N
authors: Murphy
authors: Academic Centre on Rare Diseases, University College Dublin School of Medicine and Medical Science, Dublin, Ireland.
authors: Jillian P
authors: JP
authors: Casey
authors: Academic Centre on Rare Diseases, University College Dublin School of Medicine and Medical Science, Dublin, Ireland.
authors: Sally A
authors: SA
authors: Lynch
mesh_terms: D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2; D002897:Chromosomes, Human, Pair 7; D055028:Comparative Genomic Hybridization; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D056726:Genetic Association Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D017422:Sequence Analysis, DNA; D012886:Skull / Q000002:abnormalities; D036542:Tomography, Spiral Computed; D014178:Translocation, Genetic
keywords: coronal; craniosynostosis; metopic; translocation