title: Apert syndrome in a newborn infant without craniosynostosis.
abstract: Apert syndrome is a rare congenital disorder characterized by irregular craniosynostosis especially of the coronal suture. We report a case of Apert syndrome confirmed by molecular genetic analysis in a newborn infant, who did not have craniosynostosis at birth. Because this disturbance in osteogenesis may vary in timing and extent, we suggest that this diagnosis be considered even in the absence of this hallmark finding.
authors.affiliation: Staten Island University Hospital, Staten Island, NY 10305, USA. rcooma@siuh.edu
authors.forename: Sivaroopi
authors.initials: S
authors.lastname: Coomaralingam
authors.forename: Philip
authors.initials: P
authors.lastname: Roth
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
chemical_list: D051497:Receptor, Fibroblast Growth Factor, Type 2