Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome.
We describe two independent cases of Brachmann-de Lange syndrome (BDLS) in which second trimester fetal sonographic studies showed the presence of a diaphragmatic hernia and upper limb anomalies. In both cases the karyotypes were normal. Intrauterine growth restriction (IUGR) developed in the third trimester. Postnatal and postmortem physical examinations demonstrated typical physical findings associated with BDLS. The prenatal diagnosis of diaphragmatic hernia with associated anomalies should prompt consideration of an underlying genetic etiology.
Marino
Teresa
T
Division of Maternal-Fetal Medicine, Department of Pediatrics, New England Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA. tmarino@lifespan.org
Wheeler
Patricia G
PG
Simpson
Lynn L
LL
Craigo
Sabrina D
SD
Bianchi
Diana W
DW
D000328:Adult; D006063:Chorionic Gonadotropin / Q000097:blood; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000235:genetics; D004964:Estriol / Q000097:blood; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications; D006228:Hand Deformities, Congenital / Q000175:diagnosis; D006548:Hernia, Diaphragmatic / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000032:analysis
D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004964:Estriol