Unique Occurrence of Brachmann-de Lange Syndrome in a Fetus whose Mother Presented with a Diffuse Large B-Cell Lymphoma

Christiane SCHIFFER1, Monika SCHIESSER3, Jutta LEHR3, Gholamali TARIVERDIAN2, Dieter GLAESER4, Heinz GABRIEL5, Gregor MIKUZ6, Consolato SERGI6

1Central Institute of Mental Health, Department of Child and Adolescent Psychiatry and Psychotherapy, Mannheim, Germany
2Department of Clinical Genetics, Medical University of Heidelberg, Heidelberg, Germany
3Department of Obstetrics and Gynecology, Medical University of Heidelberg, Heidelberg, Germany
4Gregor Mendel Laboratories, Center of Human Genetics, Neu-Ulm, Germany
5Center of Medical Genetics, Osnabrueck, Germany
6Institute of Pathology, Medical University of Innsbruck, Innsbruck, Austria


Brachmann-De Lange Syndrome (BDLS, MIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by a variable phenotype including intrauterine fetal growth retardation, limb reduction and distinctive facial and skull features (low frontal hairline, synophrys, anteverted nostrils, long philtrum, downturned corners of the mouth, micro- and retrognathia, low-set ears and micro-/brachycephaly), as well as a significant psychological developmental delay. A proposed classification system for BDLS include a classic type with characteristic facial and skull changes, a mild type where similar changes may develop with time or may be partially expressed, and a third type including phenocopies, where phenotypic changes are casually related to chromosomal aneuploidies or teratogenic exposures. We report on a 22-week gestation fetus with BDLS, showing intrauterine fetal growth retardation, brachycephaly, micro-/retrognathia and monolateral single bone of the forearm, in a woman harboring diffuse large B-cell lymphoma. Meticulous family history was negative for malformations, syndromes, congenital anomalies or psychiatric disorders. There are very few reports of BDLS at early gestation, but to the best of our knowledge, this is the first case occurring simultaneously with a hematological neoplastic disease of the mother. Pathology & Oncology Research, Vol 13, Nr 3, 255-259, 2007

Key words: Fetal growth retardation; upper limb defect; neoplasia

Received: Dec 5, 2006; accepted: Jul 20, 2007
Correspondence: Consolato SERGI, Institute of Pathology, Medical University of Innsbruck, Muellerstrasse 44 Innsbruck A-6020, Austria; Tel: +43 512 9003 71316, Fax: +43 512 582 088; E-mail:

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