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Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome |
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| Authors: | Teresa Marino Patricia G Wheeler Lynn L Simpson Sabrina D Craigo Diana W Bianchi |
| Institution: | 1. Division of Maternal–Fetal Medicine, Department of Pediatrics, New England Medical Center and Tufts University School of Medicine, Boston, MA, USA;2. Division of Genetics, Department of Pediatrics, New England Medical Center and Tufts University School of Medicine, Boston, MA, USA;3. Division of Maternal–Fetal Medicine, New York Presbyterian Hospital, Columbia University College of Physicians and Surgeons, New York, NY, USA |
| Abstract: | 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. |
| Keywords: | Brachmann-de Lange syndrome prenatal ultrasonography diaphragmatic hernia syndactyly oligodactyly ulnar hypoplasia |