title: Unique occurrence of Brachmann-de Lange syndrome in a fetus whose mother presented with a diffuse large B-cell lymphoma.
abstract: 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.
authors.affiliation: Central Institute of Mental Health, Department of Child and Adolescent Psychiatry and Psychotherapy, Mannheim, Germany.
authors.forename: Christiane
authors.initials: C
authors.lastname: Schiffer
authors.forename: Monika
authors.initials: M
authors.lastname: Schiesser
authors.forename: Jutta
authors.initials: J
authors.lastname: Lehr
authors.forename: Gholamali
authors.initials: G
authors.lastname: Tariverdian
authors.forename: Dieter
authors.initials: D
authors.lastname: Glaeser
authors.forename: Heinz
authors.initials: H
authors.lastname: Gabriel
authors.forename: Gregor
authors.initials: G
authors.lastname: Mikuz
authors.forename: Consolato
authors.initials: C
authors.lastname: Sergi
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D016403:Lymphoma, Large B-Cell, Diffuse / Q000175:diagnosis* / Q000188:drug therapy; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second
chemical_list: D000970:Antineoplastic Agents