title: Apert syndrome: what prenatal radiographic findings should prompt its consideration?
abstract: Apert syndrome was diagnosed in a newborn with typical facial and digital features whose only detected prenatal abnormality had been agenesis of the corpus callosum. This prompted a review of the central nervous system findings in all cases of Apert syndrome treated at the Craniofacial Center Boston Children's Hospital between 1978 and 2004. Two of 30 patients with Apert syndrome had prenatal identification of mild dilatation of the lateral cerebral ventricles and complete agenesis of the corpus callosum (ACC) documented with both ultrasound and MRI. Both had the common S252W mutation of FGFR2. Though cranial and orbital malformations typical of Apert were eventually seen in these fetuses in the third-trimester, even in retrospect, these were not detectable at mid second-trimester, ultrasound screening for congenital malformations. Hand malformations also went undetected in the second-trimester despite extensive imaging by experienced radiologists. We conclude that prenatal ultrasonographic identification of mild ventriculomegaly or ACC should stimulate a careful search for features of Apert syndrome and prompt follow-up imaging to look for bony abnormalities that have later onset. Prenatal molecular testing for Apert mutations should be considered in cases of mild ventriculomegaly and ACC.
authors.affiliation: Massachusetts General Hospital Center for Human Genetic Research, Genetics Training Program, Harvard Medical School, Boston, MA 02115, USA.
authors.forename: Fabiola
authors.initials: F
authors.lastname: Quintero-Rivera
authors.forename: Caroline D
authors.initials: CD
authors.lastname: Robson
authors.forename: Rosemary E
authors.initials: RE
authors.lastname: Reiss
authors.forename: Deborah
authors.initials: D
authors.lastname: Levine
authors.forename: Carol
authors.initials: C
authors.lastname: Benson
authors.forename: John B
authors.initials: JB
authors.lastname: Mulliken
authors.forename: Virginia E
authors.initials: VE
authors.lastname: Kimonis
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D016216:Ultrasonography, Prenatal
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2