How to cite this article: Bar-Yosef O, Polak-Charcon S, Hoffman C, Feldman ZP, Frydman M, Kuint J. 2008. Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC. Am J Med Genet Part A 146A:3054–3057.
Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC†
Article first published online: 30 OCT 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 23, pages 3054–3057, 1 December 2008
How to Cite
Bar-Yosef, O., Polak-Charcon, S., Hoffman, C., Feldman, Z. P., Frydman, M. and Kuint, J. (2008), Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC. Am. J. Med. Genet., 146A: 3054–3057. doi: 10.1002/ajmg.a.32541
- Issue published online: 20 NOV 2008
- Article first published online: 30 OCT 2008
- Manuscript Accepted: 16 JUL 2008
- Manuscript Received: 12 APR 2008
- Ehlers–Danlos syndrome;
- skull fractures;
- premature birth;
- cerebral hemorrhage
We describe a newborn infant with multiple congenital skull fractures and intracranial hemorrhage. He also had multiple skin folds suggesting a connective tissue abnormality. Electron microscopy of the skin biopsy showed collagen abnormalities with a “hieroglyphic appearance.” The analysis of the synthesis of collagen in the cultured dermal fibroblasts demonstrated an accumulation of procollagen I. Molecular analysis found a nonsense mutation Q225X in ADAMTS2 gene, which encodes procollagen I N-terminal proteinase. All these findings confirmed the diagnosis of Ehlers–Danlos syndrome type VIIC (MIM 225410). Family studies suggested a founder effect in Ashkenazi Jews originating from Belarus. Prenatal diagnosis in the subsequent pregnancy reassured the parents that the fetus was an unaffected carrier. © 2008 Wiley-Liss, Inc.