Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome

Apert syndrome is characterized by craniosynostosis, mid-facial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural hi story of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance o f the skull. The subsequent examination including transvaginal brain scanni ng demonstrated a deformed occipital part of the cerebrum and lateral ventr icles, frontal bossing, a tow nasal bridge and an abnormal appearance of th e fetal hands and feet. The distortion of the fetal profile became progress ively worse with advancing gestation. Towards the end of pregnancy, anterio r prominence of the cerebrum, ventricles and corpus callosum was demonstrat ed and mild non-progressive ventriculomegaly was seen. The female 3152-g ne wborn with the typical facial appearance of Apert syndrome, bilateral synda ctyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated t he fusion of the coronet suture and a wide mid-line calvarial defect, and c ranial magnetic resonance imaging confirmed the prenatal sonographic findin gs. Although the karyotype was normal, genomic DNA analysis of the fibrobla st growth factor receptor 2 revealed Ser252Trp, which is specified in the m utational basis of Apert syndrome. The rime course of the prenatal findings in this case may help increase und erstanding of the intrauterine natural history of Apert syndrome.