title: Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome.
abstract: A 21-month-old Caucasian female with the combination of craniofrontonasal syndrome and a posterolateral defect of the diaphragm (type Bochdalek) is described. This is thought to be a previously undescribed combination. Pedigree analysis is consistent with an X-linked mode of inheritance of the craniofrontonasal syndrome.
authors: Alice S
authors: AS
authors: Brooks
authors: Marieke
authors: M
authors: van Dooren
authors: Jeannette
authors: J
authors: Hoogeboom
authors: Saskia
authors: S
authors: Gischler
authors: Patrick J
authors: PJ
authors: Willems
authors: Dick
authors: D
authors: Tibboel
mesh_terms: D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics / Q000473:pathology; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009666:Nose / Q000002:abnormalities; D013577:Syndrome; D014057:Tomography, X-Ray Computed