Bergmann, Christoph and Geipel, A. and Noack, F. and Smrcek, J. and Krapp, M. and Germer, Ute and Bender, G. and Gembruch, U. (2005) Prenatal diagnosis of Bruck syndrome. PRENATAL DIAGNOSIS, 25 (7). pp. 535-538. ISSN 0197-3851,
Full text not available from this repository. (Request a copy)Abstract
Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself. Copyright (c) 2005 John Wiley & Sons, Ltd.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CONGENITAL JOINT CONTRACTURES; OSTEOGENESIS IMPERFECTA; BONE; Bruck syndrome; osteogenesis imperfecta; arthrogryposis multiplex congenita; prenatal diagnosis; ultrasound; fetus |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Frauenheilkunde und Geburtshilfe (Schwerpunkt Frauenheilkunde) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 10 May 2021 06:58 |
| Last Modified: | 10 May 2021 06:58 |
| URI: | https://pred.uni-regensburg.de/id/eprint/35972 |
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