Prenatal diagnosis of Treacher Collins’s syndrome (mandibulofacial dysostosis)

Abstract

Prenatal diagnosis of maxillofacial dysostosis at 19 weeks and 3 days gestation is presented. The following sonographic features and congenital malformations are revealed during the ultrasound study of fetal anatomy: ventriculomegaly, palpebral lack of visualization of the nasal bone, hypoplasia of the lower jaw, abnormal ears. The phenotype is regarded as Franceschetti syndrome (OMIM 154500). Fetal karyotype — 46,XX. The pregnancy is terminated at the family’s request with the diagnosis being verified at postmortem examination.