Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome.
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.
Brooks
Alice S
AS
van Dooren
Marieke
M
Hoogeboom
Jeannette
J
Gischler
Saskia
S
Willems
Patrick J
PJ
Tibboel
Dick
D
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