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...

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Bibliographic Details
Published in:Prenatal diagnosis 2002-02, Vol.22 (2), p.144-147
Main Authors: Marino, Teresa, Wheeler, Patricia G., Simpson, Lynn L., Craigo, Sabrina D., Bianchi, Diana W.
Format: Article
Language:English
Subjects:
Adult
alpha-Fetoproteins - analysis
Biological and medical sciences
Brachmann-de Lange syndrome
Chorionic Gonadotropin - blood
De Lange Syndrome - diagnosis
De Lange Syndrome - genetics
diaphragmatic hernia
Estriol - blood
Fatal Outcome
Female
Fetal Growth Retardation - complications
Gynecology. Andrology. Obstetrics
Hand Deformities, Congenital - diagnosis
Hernia, Diaphragmatic - complications
Hernia, Diaphragmatic - diagnostic imaging
Humans
Limb Deformities, Congenital - diagnosis
Malformations of the nervous system
Management. Prenatal diagnosis
Medical sciences
Neurology
oligodactyly
Pregnancy
Pregnancy Trimester, Second
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
prenatal ultrasonography
syndactyly
ulnar hypoplasia
Ultrasonography, Prenatal
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Summary: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. Copyright © 2002 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.281